Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 1/50

Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la "Veille Neuromusculaire" contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est celle de la Fiche Technique Savoir & Comprendre "Avancées médico-scientifiques neuromusculaires" publiée par l'AFM-Téléthon et mise à jour en octobre 2012. Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase Every two weeks, you will find in the “Neuromuscular Alert” the latest references published in Pubmed. The list of covered diseases comes from the October 2012 publication "Avancées médico-scientifiques neuromusculaires", Fiche technique Savoir & Comprendre published by l'AFM-Téléthon. Previous alerts are available for consultation on Myobase, the AFM bibliographic database in the field of Neuromuscular Disorders

Sommaire par maladies / diseases

Amyotrophies spinales – Spinal muscular atrophies .................................................................................. 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 3 Canalopathies musculaires – Muscular channelopathies........................................................................... 6 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease .............................................................. 7 Dystroglycanopathies – Dystroglycanopathies ........................................................................................... 8 Dystrophies musculaires congénitales – Congenital muscular dystrophies ........................................... 8 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ......................................... 8 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 9 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 20 Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 20 Fibrodysplasie ossifiante progressive – Fibrodysplasia ossificans progressiva .................................. 23 Maladie de Pompe – Pompe disease ........................................................................................................... 24 Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 25 Myopathies congénitales – Congenital myopathies .................................................................................. 27 Myopathies distales – Distal myopathies ................................................................................................... 29 Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 31 Myopathies métaboliques – Metabolic myopathies ................................................................................... 35 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 37 Myopathies myofibrillaires – Myofibrillar myopathies............................................................................... 37 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 37 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases) ........... 38 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases) . 38 Divers – Miscellaneous ................................................................................................................................. 40

Sommaire par spécialités / specialties

Cardiologie – Cardiology .............................................................................................................................. 41 Electromyographie – Electromyography .................................................................................................... 43 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ................................................................... 43 Imagerie médicale – Medical Imaging ......................................................................................................... 44

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 2/50

Médecine physique et de réadaptation – Physical Medicine & Rehabilitation ....................................... 46 Nephrology – Nephrology ............................................................................................................................. 47 Ophtalmology – Ophtalmology .................................................................................................................... 47 Pneumologie – Pulmonary Medicine ........................................................................................................... 48

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 3/50

Amyotrophies spinales – Spinal muscular atrophies 1. Am J Med Genet A. 2018 Aug 27. doi: 10.1002/ajmg.a.40493. [Epub ahead of print]

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Wojcik MH1,2,3, Okada K4, Prabhu SP5, Nowakowski DW6, Ramsey K7, Balak C7, Rangasamy S7, Brownstein CA2,3, Schmitz-Abe K1,3, Cohen JS8, Fatemi A8,9, Shi J10, Grant EP1,5, Narayanan V7, Ho HH4, Agrawal PB1,2,3. 1Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 2Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 3The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 4Department of Cell Biology and Human Anatomy, University of California Davis School of Medicine, Davis, California. 5Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. 6N Molecular Systems, Inc., Palo Alto, California. 7Center for Rare Childhood Disorders, Translational Genomic Research Institute, Phoenix, Arizona. 8Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland. 9Departments of Neurology and Pediatrics, Johns Hopkins Medical Institutions, Baltimore, Maryland. 10Department of Biomedical Sciences, City University of Hong Kong, Hong Kong, Hong Kong SAR. KEYWORDS: KIF26B; arthrogryposis; kinesin; microcephaly; pontocerebellar hypoplasia PMID: 30151950 DOI: 10.1002/ajmg.a.40493

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 2. Neuromuscul Disord. 2018 Aug 4. pii: S0960-8966(18)31068-X. doi: 10.1016/j.nmd.2018.07.013.

[Epub ahead of print] Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy? Pera MC1, Luigetti M2, Sivo S1, Lapenta L1, Granata G2, Antonaci L1, Coratti G1, Forcina N1, Pane M1, Mercuri E3. 1Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome, Italy. 2UOC Neurologia, Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome, Italy. 3Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it. KEYWORDS: 6 minute walk test; Fatigue; Low-rate nerve stimulation; Neuromuscular disorders; Neuromuscular junction; Spinal muscular atrophy PMID: 30177455 DOI:10.1016/j.nmd.2018.07.013

3. PLoS One. 2018 Sep 6;13(9):e0203398. doi: 10.1371/journal.pone.0203398. eCollection 2018. Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. Strathmann EA1,2, Peters M1,2,3, Hosseinibarkooie S1,2, Rigo FW4, Bennett CF4, Zaworski PG5, Chen KS6, Nothnagel M7, Wirth B1,2,8,9. 1Institute of Human Genetics, University of Cologne, Cologne, Germany. 2Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. 3Endocrine Research Unit, Medical clinic and Outpatient clinic IV, University of Munich, Munich, Germany. 4IONIS Pharmaceuticals, Carlsbad, California, United States of America. 5PharmOptima, Portage, Michigan, United States of America. 6SMA Foundation, New York, New York, United States of America. 7Department of Statistical Genetics and Bioinformatics, Cologne Centre for Genomics, University of Cologne, Cologne, Germany. 8Institute for Genetics, University of Cologne, Cologne, Germany. 9Center for Rare Diseases, University Hospital of Cologne, Cologne, Germany. PMID: 30188931 PMCID:PMC6126849 DOI:10.1371/journal.pone.0203398 Free PMC Article

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 4/50

4. PLoS One. 2018 Sep 6;13(9):e0202104. doi: 10.1371/journal.pone.0202104. eCollection 2018. Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. Carson VJ1, Puffenberger EG1, Bowser LE1,2, Brigatti KW1, Young M1, Korulczyk D1, Rodrigues AS1, Loeven KK1, Strauss KA1. 1Clinic for Special Children, Strasburg, Pennsylvania, United States of America. 2Franklin and Marshall College, Lancaster, Pennsylvania, United States of America. PMID: 30188899 PMCID: PMC6126807 DOI:10.1371/journal.pone.0202104 Free PMC Article

5. Pediatr Radiol. 2018 Aug 30. doi: 10.1007/s00247-018-4240-7. [Epub ahead of print] Ultrasound-guided cervical puncture for nusinersen administration in adolescents. Ortiz CB1, Kukreja KU2,3, Lotze TE1,4, Chau A1,5. 1Baylor College of Medicine, Houston, TX, USA. 2Baylor College of Medicine, Houston, TX, USA. drkamleshkukreja@yahoo.com. 3Department of Interventional Radiology, Texas Children's Hospital, 6621 Fannin St., Houston, TX, 77030, USA. drkamleshkukreja@yahoo.com. 4Department of Pediatric Neurology, Texas Children's Hospital, Houston, TX, USA. 5Department of Interventional Radiology, Texas Children's Hospital, 6621 Fannin St., Houston, TX, 77030, USA. KEYWORDS: Adolescents; Cervical puncture; Nusinersen; Spinal muscular atrophy; Ultrasound guidance PMID: 30167764 DOI: 10.1007/s00247-018-4240-7

6. Methods Mol Biol. 2018;1828:467-477. doi: 10.1007/978-1-4939-8651-4_29. Morpholino-Mediated Exon Inclusion for SMA. Zhou H1, Muntoni F2. 1The Dubowitz Neuromuscular Centre, Molecular Neurosciences Session, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, London, UK. 2The Dubowitz Neuromuscular Centre, Molecular Neurosciences Session, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London, London, UK. f.muntoni@ucl.ac.uk. KEYWORDS: Alternative splicing; Antisense oligonucleotide; Exon inclusion; Motor neurons; Neuromuscular junction; PMO; SMA; SMN2; Skeletal muscle pathology; Transgenic mouse model PMID: 30171560 DOI:10.1007/978-1-4939-8651-4_29

7. Methods Mol Biol. 2018;1828:455-465. doi: 10.1007/978-1-4939-8651-4_28. Systemic and ICV Injections of Antisense Oligos into SMA Mice and Evaluation. Aslesh T1, Maruyama R1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. 2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense oligonucleotides; Antisense therapy; Exon inclusion; Nusinersen (Spinraza); Phosphorodiamidate morpholino oligomers (PMO or morpholinos); Spinal muscular atrophy (SMA); Splice modulation therapy; Splice switching; Survival of motor neuron (SMN); Werdnig–Hoffmann disease PMID: 30171559 DOI:10.1007/978-1-4939-8651-4_28

8. Methods Mol Biol. 2018;1828:439-454. doi: 10.1007/978-1-4939-8651-4_27. In Vitro Evaluation of Antisense-Mediated Exon Inclusion for Spinal Muscular Atrophy. Touznik A1, Maruyama R1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 5/50

2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense oligonucleotides; Antisense therapy; Exon inclusion; Locked nucleic acids (LNA); Nusinersen (Spinraza); Phosphorodiamidate morpholino oligomers (PMO morpholinos); Spinal muscular atrophy (SMA); Splice modulation therapy; Survival of motor neuron (SMN); Werdnig–Hoffmann disease PMID: 30171558 DOI:10.1007/978-1-4939-8651-4_27

9. Methods Mol Biol. 2018;1828:69-76. doi: 10.1007/978-1-4939-8651-4_4. Nusinersen in the Treatment of Spinal Muscular Atrophy. Goodkey K1, Aslesh T1, Maruyama R1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. 2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense oligonucleotides (ASOs); Exon inclusion; Food and drug agency (FDA); Intronic splicing silencer (ISS-N1); Nusinersen (Spinraza); SMN2; Spinal muscular atrophy (SMA); Survival of motor neuron (SMN); Werdnig–Hoffmann disease; 2'-O-methoxyethyl (MOE) PMID: 30171535 DOI:10.1007/978-1-4939-8651-4_4

10. Methods Mol Biol. 2018;1828:57-68. doi: 10.1007/978-1-4939-8651-4_3. Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy. Son HW1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. 2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense oligonucleotides; Antisense therapy; Dubowitz disease; Exon inclusion; Kugelberg–Welander disease; Morpholino; Nusinersen (Spinraza); Peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO); Phosphorodiamidate morpholino oligomer (PMO); Spinal muscular atrophy (SMA); Werdnig–Hoffmann disease PMID: 30171534 DOI:10.1007/978-1-4939-8651-4_3

11. World J Clin Pediatr. 2018 Aug 30;7(3):75-82. doi: 10.5409/wjcp.v7.i3.75. eCollection 2018 Aug 30. Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering. Tommasini A1, Magnolato A2, Bruno I2. 1Department of Pediatrics, Institute of Maternal and Child Health, IRCCS Burlo Garofolo, Trieste 34137, Italy. alberto.tommasini@burlo.trieste.it. 2Department of Pediatrics, Institute of Maternal and Child Health, IRCCS Burlo Garofolo, Trieste 34137, Italy. KEYWORDS: Beta thalassemia; Bioethics; Genetics; History of medicine; Precision medicine; Primary immunodeficiency; Spinal muscular atrophy; X-severe combined immunodeficiency PMID: 30191136 PMCID:PMC6125142 DOI:10.5409/wjcp.v7.i3.75 Free PMC Article

12. Pharmacoecon Open. 2018 Sep 4. doi: 10.1007/s41669-018-0093-0. [Epub ahead of print] High Healthcare Resource Use in Hospitalized Patients with a Diagnosis of Spinal Muscular Atrophy Type 1 (SMA1): Retrospective Analysis of the Kids' Inpatient Database (KID). Cardenas J1, Menier M1, Heitzer MD1, Sproule DM2. 1Department of Clinical Development, AveXis, Inc, 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA. 2Department of Clinical Development, AveXis, Inc, 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA. Dsproule216@avexis.com. PMID: 30182345 DOI: 10.1007/s41669-018-0093-0 Free full text

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 6/50

13. J Clin Sleep Med. 2018 Aug 30. pii: jc-18-00032. [Epub ahead of print] An Unusual Cause of Obstructive Sleep Apnea in a Man With Spinal Muscular Atrophy Type III. Chau SK, Lau CL, Lee SL. PMID: 30176968

14. Nat Rev Neurol. 2018 Aug 29. doi: 10.1038/s41582-018-0068-x. [Epub ahead of print] A potential biomarker strategy to monitor treatment response in spinal muscular atrophy. Wood H1. 1Nature Reviews Neurology, nrneuro@nature.com. PMID: 30158561 DOI: 10.1038/s41582-018-0068-x

15. Neurology. 2018 Aug 29. pii: 10.1212/WNL.0000000000006281. doi: 10.1212/WNL.0000000000006281. [Epub ahead of print]

Nusinersen in spinal muscular atrophy type 1 patients older than 7 months: A cohort study. Aragon-Gawinska K1, Seferian AM1, Daron A1, Gargaun E1, Vuillerot C1, Cances C1, Ropars J1, Chouchane M1, Cuppen I1, Hughes I1, Illingworth M1, Marini-Bettolo C1, Rambaud J1, Taytard J1, Annoussamy M1, Scoto M1, Gidaro T1, Servais L2. 1From the Institute I-motion (K.A.-G., A.M.S., E.G., M.A., T.G., L.S.), Pediatric Intensive Care Unit (J. Rambaud), and Department of Pediatric Pneumology (J.T.), Armand Trousseau Hospital, Paris, France; Neuromuscular Reference Centre (A.D., L.S.), Citadelle Hospital, Liege, Belgium; Department of Pediatric Physical Medicine and Rehabilitation (C.V.), University Hospital of Lyon; Department of Child Neurology (C.C.), University Hospital of Toulouse; Department of Child Neurology (J. Ropars), University Hospital of Brest; Department of Pediatrics (M.C.), University Hospital of Dijon, France; Department of Neurology & Neurosurgery (I.C.), Brain Center Rudolf Magnus, UMC Utrecht, the Netherlands; Royal Manchester Children's Hospital (I.H.), Manchester; Department of Paediatric Neurology (M.I.) University Hospital Southampton; John Walton Muscular Dystrophy Research Centre (C.M.-B.), Institute of Genetic Medicine, Newcastle University; and Dubowitz Neuromuscular Centre (M.S.), UCL Great Ormond Street Institute of Child Health, London, UK. 2From the Institute I-motion (K.A.-G., A.M.S., E.G., M.A., T.G., L.S.), Pediatric Intensive Care Unit (J. Rambaud), and Department of Pediatric Pneumology (J.T.), Armand Trousseau Hospital, Paris, France; Neuromuscular Reference Centre (A.D., L.S.), Citadelle Hospital, Liege, Belgium; Department of Pediatric Physical Medicine and Rehabilitation (C.V.), University Hospital of Lyon; Department of Child Neurology (C.C.), University Hospital of Toulouse; Department of Child Neurology (J. Ropars), University Hospital of Brest; Department of Pediatrics (M.C.), University Hospital of Dijon, France; Department of Neurology & Neurosurgery (I.C.), Brain Center Rudolf Magnus, UMC Utrecht, the Netherlands; Royal Manchester Children's Hospital (I.H.), Manchester; Department of Paediatric Neurology (M.I.) University Hospital Southampton; John Walton Muscular Dystrophy Research Centre (C.M.-B.), Institute of Genetic Medicine, Newcastle University; and Dubowitz Neuromuscular Centre (M.S.), UCL Great Ormond Street Institute of Child Health, London, UK. l.servais@institut-myologie.org. PMID: 30158155 DOI:10.1212/WNL.0000000000006281

Canalopathies musculaires – Muscular channelopathies 16. Neuromuscul Disord. 2018 Jun 30. pii: S0960-8966(18)30151-2. doi: 10.1016/j.nmd.2018.06.008.

[Epub ahead of print] Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients. Jeong HN1, Yi JS2, Lee YH3, Lee JH1, Shin HY4, Choi YC1, Kim SM1. 1Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea. 2Department of Radiology, Research Institute of Radiological Science, YUHS-KRIBB Medical Convergence Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea; Department of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan, Republic of Korea. 3Department of Radiology, Research Institute of Radiological Science, YUHS-KRIBB Medical Convergence Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea. 4Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address: hayshin@yuhs.ac.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 7/50

KEYWORDS: Chronic progressive myopathy; Fat quantification; Hyperkalemic periodic paralysis; Muscle MRI PMID: 30172468 DOI: 10.1016/j.nmd.2018.06.008

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease 17. J Neurol Neurosurg Psychiatry. 2018 Sep 8. pii: jnnp-2018-319014. doi: 10.1136/jnnp-2018-319014.

[Epub ahead of print] X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. Koutsis G1, Breza M2, Velonakis G3, Tzartos J4, Kasselimis D5,6, Kartanou C2, Karavasilis E3, Tzanetakos D4, Anagnostouli M4, Andreadou E4, Evangelopoulos ME4, Kilidireas C4, Potagas C5, Panas M2, Karadima G2. 1Neurogenetics Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece gkoutsi2@otenet.gr. 2Neurogenetics Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece. 32nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece. 4Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece. 5Neuropsychology and Speech Pathology Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece. 6Division of Psychiatry and Behavioral Sciences, School of Medicine, University of Crete, Crete, Greece. KEYWORDS: CNS demyelination; Charcot-Marie-Tooth; GJB1; connexin-32; multiple sclerosis PMID: 30196252 DOI: 10.1136/jnnp-2018-319014

18. Brain Dev. 2018 Aug 31. pii: S0387-7604(18)30167-0. doi: 10.1016/j.braindev.2018.08.006. [Epub ahead of print]

X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. Nishikura N1, Yamagata T2, Morimune T3, Matsui J3, Sokoda T3, Sawai C3, Sakaue Y3, Higuchi Y4, Hashiguchi A4, Takashima H4, Takeuchi Y3, Maruo Y3. 1Department of Pediatrics, Shiga University of Medical Science, Otsu 520-2192, Japan. Electronic address: noriko@belle.shiga-med.ac.jp. 2Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan. 3Department of Pediatrics, Shiga University of Medical Science, Otsu 520-2192, Japan. KEYWORDS: Acute weakness; Charcot–Marie–Tooth disease; Hearing impairment; PRPS1 gene PMID: 30177296 DOI:10.1016/j.braindev.2018.08.006

19. Exp Neurol. 2018 Aug 28;310:1-13. doi: 10.1016/j.expneurol.2018.08.009. [Epub ahead of print] Genetic screening of the genes interacting with Drosophila FIG4 identified a novel link between CMT-causing gene and long noncoding RNAs. Muraoka Y1, Nakamura A1, Tanaka R1, Suda K1, Azuma Y2, Kushimura Y2, Lo Piccolo L3, Yoshida H1, Mizuta I2, Tokuda T4, Mizuno T2, Nakagawa M5, Yamaguchi M6. 1Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan; The Center for Advanced Insect Research, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan. 2Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan. 3Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan. 4Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan; Department of Molecular Pathobiology of Brain Diseases, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan. 5Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan; North Medical Center, Kyoto Prefectural University of Medicine, 481 otokoyama, yosano-cho, yosa-gun, Kyoto 629-2291, Japan. 6Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan; The Center for Advanced Insect Research, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan. Electronic address: myamaguc@kit.ac.jp. KEYWORDS: ALS; CMT; Drosophila; FIG4; FUS; Long non-coding RNAs

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 8/50

PMID: 30165075 DOI: 10.1016/j.expneurol.2018.08.009

Dystroglycanopathies – Dystroglycanopathies 20. Nat Commun. 2018 Aug 27;9(1):3448. doi: 10.1038/s41467-018-05990-z.

Ribitol restores functionally glycosylated α-dystroglycan and improves muscle function in dystrophic FKRP-mutant mice. Cataldi MP1, Lu P1, Blaeser A1, Lu QL2. 1McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, Charlotte, NC, 28203, USA. 2McColl-Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Carolinas Healthcare System, Charlotte, NC, 28203, USA. qi.lu@carolinashealthcare.org. PMID: 30150693 PMCID:PMC6110760 DOI: 10.1038/s41467-018-05990-z Free PMC Article

Dystrophies musculaires congénitales – Congenital muscular dystrophies 21. Case Rep Genet. 2018 Jul 25;2018:3028145. doi: 10.1155/2018/3028145. eCollection 2018.

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. Dimova I1, Kremensky I1. 1Laboratory of Genomic Diagnostics, Center of Molecular Medicine, Department of Medical Chemistry and Biochemistry, Medical University Sofia, Zdrave Str. 2, 1431 Sofia, Bulgaria. PMID: 30147969 PMCID: PMC6083551 DOI: 10.1155/2018/3028145 Free PMC Article

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 22. Physiol Genomics. 2018 Aug 31. doi: 10.1152/physiolgenomics.00036.2018. [Epub ahead of print]

The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Saha M, Reddy HM1, Salih M, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA2, Draper I, Kang PB3. 1Pediatrics, University of Florida, United States. 2Pediatrics, University of Florida. 3Pediatrics, University of Florida College of Medicine, United States. KEYWORDS: CG10721; PYROXD1; exome sequencing; limb girdle muscular dystrophy PMID: 30169133 DOI:10.1152/physiolgenomics.00036.2018

23. Mol Ther. 2018 Sep 5;26(9):2231-2242. doi: 10.1016/j.ymthe.2018.07.021. Epub 2018 Aug 27. Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit. Sreetama SC1, Chandra G1, Van der Meulen JH1, Ahmad MM1, Suzuki P1, Bhuvanendran S1, Nagaraju K2, Hoffman EP2, Jaiswal JK3. 1Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA. 2Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton University, Binghamton, NY 13902, USA.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 9/50

3Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. Electronic address: jkjaiswal@cnmc.org. KEYWORDS: LGMD2B; VBP15; dysferlinopathy; glucocorticoid; inflammation; membrane lipids; membrane repair; muscle injury; steroid PMID: 30166241 PMCID: PMC6127637 [Available on 2019-09-05] DOI: 10.1016/j.ymthe.2018.07.021 Free full text

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker –

Dystrophinopathies 24. Mol Ther Nucleic Acids. 2018 Sep 7;12:478-489. doi: 10.1016/j.omtn.2018.06.005. Epub 2018 Jun 21.

Long-Term Morpholino Oligomers in Hexose Elicits Long-Lasting Therapeutic Improvements in mdx Mice. Han G1, Lin C1, Ning H1, Gao X1, Yin H2. 1School of Medical Laboratory and Department of Cell Biology, Tianjin Medical University, Qixiangtai Road, Heping District, Tianjin 300070, China. 2School of Medical Laboratory and Department of Cell Biology, Tianjin Medical University, Qixiangtai Road, Heping District, Tianjin 300070, China. Electronic address: haifangyin@tmu.edu.cn. KEYWORDS: Duchenne muscular dystrophy; GF; exon skipping; mitochondria; morpholino oligomers PMID: 30195785 PMCID: PMC6070676 DOI: 10.1016/j.omtn.2018.06.005 Free PMC Article

25. Mol Ther Nucleic Acids. 2018 Sep 7;12:283-293. doi: 10.1016/j.omtn.2018.05.011. Epub 2018 Jun 19. MicroRNA-206 Downregulation Improves Therapeutic Gene Expression and Motor Function in mdx Mice. Bulaklak K1, Xiao B1, Qiao C1, Li J1, Patel T1, Jin Q1, Li J1, Xiao X2. 1Division of Pharmacoengineering and Molecular Pharmaceutics, Department of Pharmaceutical Sciences, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. 2Division of Pharmacoengineering and Molecular Pharmaceutics, Department of Pharmaceutical Sciences, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Electronic address: xxiao@email.unc.edu. KEYWORDS: AAV; Duchenne muscular dystrophy; gene therapy; microRNA; rare disease PMID: 30195767 PMCID: PMC6011022 DOI: 10.1016/j.omtn.2018.05.011 Free PMC Article

26. Mol Ther. 2018 Aug 16. pii: S1525-0016(18)30381-2. doi: 10.1016/j.ymthe.2018.08.010. [Epub ahead of print]

CRISPR-Induced Deletion with SaCas9 Restores Dystrophin Expression in Dystrophic Models In Vitro and In Vivo. Duchêne BL1, Cherif K2, Iyombe-Engembe JP1, Guyon A1, Rousseau J2, Ouellet DL2, Barbeau X3, Lague P3, Tremblay JP4. 1Centre de Recherche du Centre Hospitalier Universitaire de Québec, Neurosciences Axis, Québec City, QC, Canada; Faculty of Medicine, Department of Molecular Medicine, Université Laval, Quebec City, QC, Canada. 2Centre de Recherche du Centre Hospitalier Universitaire de Québec, Neurosciences Axis, Québec City, QC, Canada. 3Proteo and IBIS, Department of Chemistry, Faculty of Science and Engineering, Laval University, Québec City, QC, Canada. 4Centre de Recherche du Centre Hospitalier Universitaire de Québec, Neurosciences Axis, Québec City, QC, Canada; Faculty of Medicine, Department of Molecular Medicine, Université Laval, Quebec City, QC, Canada. Electronic address: jacques-p.tremblay@crchul.ulaval.ca. KEYWORDS: CRISPR; CinDel; Duchenne muscular dystrophy; SaCas9; genome editing PMID: 30195724 DOI:10.1016/j.ymthe.2018.08.010

27. Muscle Nerve. 2018 Sep 8. doi: 10.1002/mus.26340. [Epub ahead of print] Body composition and body mass index in Duchenne dystrophy: Role of dietary intake.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 10/50

Bernabe-García M1, Rodríguez-Cruz M2,3, Atilano S2, Cruz-Guzmán OR2, Almeida-Becerril T2, Calder PC4, Gonzalez J2. 1Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México (CDMX), México. 2Laboratorio de Nutrición Molecular, Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México (CDMX), México. 3Maricela Rodríguez-Cruz, Ph.D., Unidad de Investigación Médica en Nutrición, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (IMSS), Av. Cuauhtémoc No. 330, Col. Doctores, Delegación Cuauhtémoc, 06725 Ciudad de México (CDMX), México. 4Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, United Kingdom and NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust and University of Southampton, Southampton, United Kingdom. KEYWORDS: Duchenne muscular dystrophy; body composition; body mass index; dietary intake; obesity; pediatric patients PMID:30194761 DOI:10.1002/mus.26340

28. Nat Commun. 2018 Sep 7;9(1):3655. doi: 10.1038/s41467-018-06057-9. Necroptosis mediates myofibre death in dystrophin-deficient mice. Morgan JE1, Prola A2, Mariot V3, Pini V4, Meng J4, Hourde C5, Dumonceaux J3, Conti F4, Relaix F2,6, Authier FJ2,6, Tiret L2, Muntoni F4, Bencze M7,8. 1The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. jennifer.morgan@ucl.ac.uk. 2U955-IMRB, Team 10, Biology of the Neuromuscular System, Inserm, UPEC, ENVA, EFS, Créteil, 94000, France. 3NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London, WC1N 1EH, UK. 4The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. 5Inter-University Laboratory of Human Movement Biology (LIBM)-EA7424, Université Savoie Mont Blanc, Campus Scientifique Technolac, 73376, Le Bourget du Lac Cedex, France. 6Nord/Est/Ile-de-France Reference Centre for Neuromuscular Diseases, Henri Mondor University Hospital (APHP), 94000, Créteil, France. 7The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. m.bencze@ucl.ac.uk. 8U955-IMRB, Team 10, Biology of the Neuromuscular System, Inserm, UPEC, ENVA, EFS, Créteil, 94000, France. m.bencze@ucl.ac.uk. PMID: 30194302 PMCID:PMC6128848 DOI:10.1038/s41467-018-06057-9 Free PMC Article

29. Muscle Nerve. 2018 Sep 7. doi: 10.1002/mus.26334. [Epub ahead of print] Timed function tests have withstood the test of time as clinically meaningful and responsive endpoints in Duchenne muscular dystrophy. McDonald CM1,2. 1Cooperative International Neuromuscular Research Group, Duchenne Natural History Study. 2Department of Physical Medicine & Rehabilitation, University of California Davis School of Medicine, Sacramento, CA, USA. PMID: 30192014 DOI: 10.1002/mus.26334

30. Acta Paediatr. 2018 Sep 6. doi: 10.1111/apa.14568. [Epub ahead of print] A mini review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy. Landfeldt E1,2, Sejersen T3, Tulinius M4. 1Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. 2Mapi Group, Stockholm, Sweden. 3The Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institutet, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden. 4Department of Pediatrics, University of Gothenburg, Queen Silvia Children's Hospital, Gothenburg, Sweden.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 11/50

KEYWORDS: Ataluren; Duchenne muscular dystrophy; Sweden; implementation model; treatment guidelines PMID: 30188594 DOI: 10.1111/apa.14568

31. Proc Natl Acad Sci U S A. 2018 Sep 4. pii: 201808648. doi: 10.1073/pnas.1808648115. [Epub ahead of print]

Engineered DNA plasmid reduces immunity to dystrophin while improving muscle force in a model of gene therapy of Duchenne dystrophy. Ho PP1, Lahey LJ2,3, Mourkioti F4, Kraft PE4, Filareto A4, Brandt M4, Magnusson KEG4, Finn EE5,6,7, Chamberlain JS5,6,7, Robinson WH2,3, Blau HM4, Steinman L8. 1Department of Neurology, Stanford University, Stanford, CA 94304. 2Department of Medicine, Division of Immunology and Rheumatology, Stanford University, Stanford, CA 94304. 3Department of Medicine, Division of Immunology and Rheumatology, Veteran Affairs Palo Alto Health Care System, Palo Alto, CA 94304. 4Baxter Laboratory for Stem Cell Biology, Department of Microbiology and Immunology, Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, CA 94305. 5Department of Neurology, Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Washington, Seattle, WA 98195. 6Department of Medicine, Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Washington, Seattle, WA 98195. 7Department of Biochemistry, Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Washington, Seattle, WA 98195. 8Department of Neurology, Stanford University, Stanford, CA 94304; steinman@stanford.edu. KEYWORDS: DNA plasmid; Duchenne muscular dystrophy; gene replacement therapy; mdx/mTRG2 mice; microdystrophin PMID: 30181272 DOI: 10.1073/pnas.1808648115

32. Proc Natl Acad Sci U S A. 2018 Sep 4. pii: 201804593. doi: 10.1073/pnas.1804593115. [Epub ahead of print]

Nanoscale remodeling of ryanodine receptor cluster size underlies cerebral microvascular dysfunction in Duchenne muscular dystrophy. Pritchard HAT1, Pires PW1, Yamasaki E1, Thakore P1, Earley S2. 1Center for Cardiovascular Research, Department of Pharmacology, University of Nevada, Reno School of Medicine, Reno, NV 89557-0318. 2Center for Cardiovascular Research, Department of Pharmacology, University of Nevada, Reno School of Medicine, Reno, NV 89557-0318 searley@med.unr.edu. KEYWORDS: Ca2+ signaling; ion channels; smooth muscle; superresolution microscopy; vasoconstriction PMID: 30181262 DOI: 10.1073/pnas.1804593115 Free full text

33. Pediatr Exerc Sci. 2018 Sep 5:1-5. doi: 10.1123/pes.2018-0115. [Epub ahead of print] Lower Limb Flexibility in Children With Duchenne Muscular Dystrophy: Effects on Functional Performance. Akkurt L1, Alemdaroğlu Gürbüz İ1, Karaduman A1, Tunca Yilmaz Ö1. 1 Hacettepe University. KEYWORDS: elasticity; function; lower extremity; muscular dystrophy PMID: 30180785 DOI: 10.1123/pes.2018-0115

34. Ultrasound Med Biol. 2018 Aug 30. pii: S0301-5629(18)30280-1. doi: 10.1016/j.ultrasmedbio.2018.07.004. [Epub ahead of print]

In Vivo Viscoelastic Response (VisR) Ultrasound for Characterizing Mechanical Anisotropy in Lower-Limb Skeletal Muscles of Boys with and without Duchenne Muscular Dystrophy. Moore CJ1, Caughey MC2, Meyer DO3, Emmett R3, Jacobs C3, Chopra M4, Howard JF Jr4, Gallippi CM5. 1Department of Electrical and Computer Engineering, North Carolina State University, Raleigh, North Carolina, USA.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 12/50

2Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. 3Rehabilitation Services, University of North Carolina Hospital, Chapel Hill, North Carolina, USA. 4Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. 5Department of Electrical and Computer Engineering, North Carolina State University, Raleigh, North Carolina, USA; Joint Department of Biomedical Engineering, University of North Carolina and North Carolina State University, Chapel Hill, North Carolina, USA. Electronic address: cmgallip@email.unc.edu. KEYWORDS: Acoustic radiation force; Anisotropy; Duchenne muscular dystrophy; Transverse isotropy; Viscoelastic response (VisR) ultrasound; Viscoelasticity PMID: 30174231 DOI:10.1016/j.ultrasmedbio.2018.07.004

35. Respir Med. 2018 Aug 22. pii: S0954-6111(18)30276-2. doi: 10.1016/j.rmed.2018.08.010. [Epub ahead of print]

Letter to the Editor: Impact of invasive ventilation on survival when non-invasive ventilation is ineffective in patients with Duchenne muscular dystrophy: A prospective cohort. Bach JR1, Liu SB2, Potpally N3, Ishikawa Y4, Gonçalves MR5. 1Department of Physical Medicine and Rehabilitation, Rutgers University - New Jersey Medical School, Behavioral Health Sciences Building F1559, 183 South Orange Ave, Newark, NJ, USA. Electronic address: bachjr@njms.rutgers.edu. 2Rutgers University - New Jersey Medical School, Behavioral Health Sciences Building F1559, 183 South Orange Ave, Newark, NJ, 07103, USA. Electronic address: susan.bliu@gmail.com. 3Rutgers University - New Jersey Medical School, Behavioral Health Sciences Building F1559, 183 South Orange Ave, Newark, NJ, 07103, USA. Electronic address: np424@njms.rutgers.edu. 4Yakumo Byoin National Sanatorium, Department of Paediatrics, 123 Miyazono-cho, Yamakoshi-gun Yakumo, Hokkaido, 049-3198, Japan. Electronic address: yuka@msa.biglobe.ne.jp. 5Noninvasive Ventilatory Support Unit, Pulmonology Department, Emergency and Intensive Care Medicine Department, São João University Hospital, Faculty of Medicine, University of Porto, Portugal. Electronic address: goncalvesmr@gmail.com. KEYWORDS: Continuous non-invasive ventilatory support; Duchenne muscular dystrophy; Mechanical insufflation-exsufflation PMID: 30174109 DOI:10.1016/j.rmed.2018.08.010

[1] Boussaïd, G., Lofaso, F., Santos, D.B., Vaugier, I., Pottier, S., Prigent, H., Bahrami, S., Orlikowski, D. Impact of invasive ventilation on survival when non-invasive ventilation is ineffective in patients with Duchenne muscular dystrophy: a prospective cohort. Respir. Med. 2016;115:26–32 https://doi.org/10.1016/j.rmed.2016.04.009

36. Biomaterials. 2018 Nov;183:54-66. doi: 10.1016/j.biomaterials.2018.08.047. Epub 2018 Aug 21. Nanotopography-responsive myotube alignment and orientation as a sensitive phenotypic biomarker for Duchenne Muscular Dystrophy. Xu B1, Magli A2, Anugrah Y3, Koester SJ4, Perlingeiro RCR5, Shen W6. 1Department of Biomedical Engineering, University of Minnesota, Minneapolis, MN 55455, USA. 2Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA; Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA. 3Department of Electrical and Computer Engineering, University of Minnesota, Minneapolis, MN 55455, USA. 4Department of Electrical and Computer Engineering, University of Minnesota, Minneapolis, MN 55455, USA; Institute for Engineering in Medicine, University of Minnesota, Minneapolis, MN 55455, USA. 5Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA; Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA; Institute for Engineering in Medicine, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: perli032@umn.edu. 6Department of Biomedical Engineering, University of Minnesota, Minneapolis, MN 55455, USA; Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA; Institute for Engineering in Medicine, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: shenx104@umn.edu. KEYWORDS: Duchenne Muscular Dystrophy; Laminin; Matrigel; Myotube orientation; Nanotopography; Stem cells PMID: 30149230 DOI: 10.1016/j.biomaterials.2018.08.047

37. J Neuromuscul Dis. 2018 Aug 20. doi: 10.3233/JND-180317. [Epub ahead of print] Bone Health and Endocrine Care of Boys with Duchenne Muscular Dystrophy: Data from the MD STARnet.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 13/50

Weber DR1, Thomas S2, Erickson SW3, Fox D2, Oleszek J4, Pandya S1, Venkatesh Y5, Westfield C2, Ciafaloni E1. 1University of Rochester School of Medicine and Dentistry, Rochester, NY, USA. 2Department of Health, New York State, Albany, NY, USA. 3RTI International, Research Triangle Park, NC, USA. 4University of Colorado-Denver, Denver, CO, USA. 5University of South Carolina School of Medicine, Columbia, SC, USA. KEYWORDS: Muscular dystrophy; bisphosphonates; duchenne; glucocorticoids; hypogonadism; osteoporosis PMID: 30149461 DOI:10.3233/JND-180317

38. J Pregnancy. 2018 Jul 30;2018:9718316. doi: 10.1155/2018/9718316. eCollection 2018. Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy. Beksac MS1, Tanacan A1, Aydin Hakli D2, Orgul G1, Soyak B1, Balci Hayta B3, Dincer P3, Topaloğlu H4. 1Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 2Department of Biostatistics, Hacettepe University Faculty of Medicine, Ankara, Turkey. 3Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 4Division of Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. PMID: 30151283 PMCID:PMC6091284 DOI:10.1155/2018/9718316 Free PMC Article

39. Paediatr Respir Rev. 2018 Jul 18. pii: S1526-0542(18)30095-2. doi: 10.1016/j.prrv.2018.07.003. [Epub ahead of print]

Sleep disordered breathing in Duchenne muscular dystrophy. Sawnani H1. 1Department of Pediatrics, University of Cincinnati, College of Medicine, Cincinnati, OH, United States; Division of Pulmonology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, United States. Electronic address: hemant.sawnani@cchmc.org. KEYWORDS: Duchenne; Muscular dystrophy; Neuromuscular disease; Sleep disordered breathing PMID: 30153979 DOI:10.1016/j.prrv.2018.07.003

40. Neuromuscul Disord. 2018 Jul 21. pii: S0960-8966(17)31447-5. doi: 10.1016/j.nmd.2018.07.005. [Epub ahead of print]

GsMTx4-D provides protection to the D2.mdx mouse. Ward CW1, Sachs F2, Bush ED3, Suchyna TM4. 1Department of Orthopedics, University of Maryland School of Medicine, 100 Penn Street, Room 515C, Baltimore, MD 21201, USA. 2Department of Physiology and Biophysics, University of Buffalo, 301 Cary Hall, Buffalo, NY 14214, USA. 3Akashi Therapeutics, 245 First Street, 18th Floor, Cambridge, MA 02142, USA. 4Department of Physiology and Biophysics, University of Buffalo, 301 Cary Hall, Buffalo, NY 14214, USA. Electronic address: suchyna@buffalo.edu. KEYWORDS: D2.mdx mouse; Dystrophy; Eccentric contraction injury; GsMTx4; Treatment PMID: 30174173 DOI:10.1016/j.nmd.2018.07.005

41. Arch Pathol Lab Med. 2018 Aug 31. doi: 10.5858/arpa.2017-0536-OA. [Epub ahead of print] Validation of a Muscle-Specific Tissue Image-Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies. Aeffner F1, Faelan C1, Moore SA1, Moody A1, Black JC1, Charleston JS1, Frank DE1, Dworzak J1, Piper JK1, Ranjitkar M1, Wilson K1, Kanaly S1, Rudmann DG1, Lange H1, Young GD1, Milici AJ1. 1From the Flagship Biosciences Inc, Westminster, Colorado (Drs Aeffner, Faelan, Black, Wilson, Kanaly, Rudmann, Lange, Young, and Milici and Mr Moody); the Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City (Dr Moore); and Sarepta Therapeutics Inc, Cambridge, Massachusetts (Drs Charleston and Frank and Messrs Dworzak, Piper, and Ranjitkar). Mr Moore is with Oregon Health and Science University, Portland, and Dr Rudmann is now with Charles River Laboratories, Ashland, Ohio.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 14/50

PMID: 30168727 DOI:10.5858/arpa.2017-0536-OA

42. APMIS. 2018 Aug;126(8):693-699. doi: 10.1111/apm.12864. Evaluation of the gastrointestinal tract in mdx mice: an experimental model of Duchenne muscular dystrophy. Feder D1, Ierardi M1, Covre AL1, Petri G1, Carvalho AAS2, Fonseca FLA3, Bertassoli BM1. 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil. 2Neurosciences Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil. 3Clinical Analysis Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil. KEYWORDS: Duchenne muscular dystrophy ; gut transit; intestinal motility; mdx mice; muscular dystrophy PMID: 30168625 DOI: 10.1111/apm.12864 [Indexed for MEDLINE]

43. JAMA Cardiol. 2018 Aug 29. doi: 10.1001/jamacardio.2018.2695. [Epub ahead of print] Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids. Abutaleb ARA1, McNally EM2,3,4, Khan SS3, Anderson AS3, Carr JC5, Wilcox JE3. 1Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 2Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 3Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 4Associate Editor. 5Department of Radiology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, Chicago, Illinois. PMID: 30167630 DOI:10.1001/jamacardio.2018.2695

44. J Physiol. 2018 Aug 30. doi: 10.1113/JP276954. [Epub ahead of print] Recovery of respiratory function in mdx mice co-treated with neutralizing interleukin-6 receptor antibodies and Urocortin-2. Burns DP1, Canavan L2, Rowland J2, O'Flaherty R1, Brannock M2, Drummond SE1, O'Malley D1, Edge D2, O'Halloran KD1. 1Department of Physiology, School of Medicine, College of Medicine & Health, University College Cork, Cork, Ireland. 2Department of Physiology, School of Medicine, Trinity Biomedical Sciences Institute, Trinity College Dublin, the University of Dublin, Dublin, Ireland. KEYWORDS: DMD; Urocortin-2; breathing; corticotrophin releasing factor; diaphragm muscle; interleukin-6; mdx PMID: 30160301 DOI:10.1113/JP276954

45. J Cardiovasc Transl Res. 2018 Aug 28. doi: 10.1007/s12265-018-9826-9. [Epub ahead of print] Exosome-Derived Dystrophin from Allograft Myogenic Progenitors Improves Cardiac Function in Duchenne Muscular Dystrophic Mice. Su X1, Jin Y1, Shen Y2, Ju C3, Cai J2, Liu Y2, Kim IM2, Wang Y1, Yu H4, Weintraub NL2, Jiang M5, Tang Y6. 1Department of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, 160, Pujian Road, Shanghai, 200127, China. 2Vascular Biology Center, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. 3Department of Cardiology, Zhongda Hospital, Medical School of Southeast University, Nanjing, China. 4Department of Cardiology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310009, China. 5Department of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, 160, Pujian Road, Shanghai, 200127, China. jiangmeng0919@163.com. 6Vascular Biology Center, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. yaotang@augusta.edu. KEYWORDS: Cardiomyopathy; Dystrophin; Exosome; Myogenic progenitor cells PMID: 30155598 DOI: 10.1007/s12265-018-9826-9

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 15/50

46. Front Physiol. 2018 Aug 14;9:1087. doi: 10.3389/fphys.2018.01087. eCollection 2018. Drug Repurposing for Duchenne Muscular Dystrophy: The Monoamine Oxidase B Inhibitor Safinamide Ameliorates the Pathological Phenotype in mdx Mice and in Myogenic Cultures From DMD Patients. Vitiello L1,2, Marabita M3, Sorato E4, Nogara L3, Forestan G4, Mouly V5, Salviati L6, Acosta M6, Blaauw B2,3,4, Canton M3,4,6. 1Department of Biology, University of Padova, Padova, Italy. 2Interuniversity Institute of Myology, Padova, Italy. 3Venetian Institute of Molecular Medicine (VIMM), Padova, Italy. 4Department of Biomedical Sciences, University of Padova, Padova, Italy. 5UMRS 974 UPMC-INSERM, Center for Research in Myology, Paris, France. 6Fondazione Istituto di Ricerca Pediatrica Città della Speranza - IRP, Padova, Italy. KEYWORDS: DMD; mdx; mitochondrial ROS; monoamine oxidase; muscular dystrophy; oxidative stress; safinamide PMID: 30154729 PMCID:PMC6102489 DOI:10.3389/fphys.2018.01087 Free PMC Article

47. J Physiol. 2018 Aug 27. doi: 10.1113/JP275672. [Epub ahead of print] Nitric oxide dependent attenuation of norepinephrine-induced vasoconstriction is impaired in the canine model of Duchenne muscular dystrophy. Kodippili K1, Hakim CH1,2, Yang HT1,3, Pan X1, Yang NN2, Laughlin MH3, Terjung RL3, Duan D1,3,4,5. 1Department of Molecular Microbiology and Immunology, University of Missouri, Columbia, MO, USA. 2National Center for Advancing Translational Sciences (NCATS), Bethesda, MD, USA. 3Department of Veterinary Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, USA. 4Department of Neurology, School of Medicine, University of Missouri, Columbia, MO, USA. 5Department of Bioengineering, University of Missouri, Columbia, MO, USA. PMID: 30152022 DOI:10.1113/JP275672

48. Annu Rev Pathol. 2018 Aug 27. doi: 10.1146/annurev-pathmechdis-012418-012945. [Epub ahead of print]

Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. Shahnoor N1, Siebers EM1, Brown KJ2, Lawlor MW1. 1Department of Pathology and Laboratory Medicine, and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA; email: nshahnoor@mcw.edu , esiebers@mcw.edu. 2Solid Biosciences, Inc., Cambridge, Massachusetts 02139, USA; email: kristy@solidbio.com. PMID: 30148687 DOI:10.1146/annurev-pathmechdis-012418-012945

Ref. 49 to 66 : Part of the Methods in Molecular Biology book series (MIMB, volume 1828) Exon Skipping and Inclusion Therapies - Methods and Protocols

49. Methods Mol Biol. 2018;1828:553-564. doi: 10.1007/978-1-4939-8651-4_36. Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy. Hara Y1, Mizobe Y1, Miyatake S1, Takizawa H1, Nagata T2, Yokota T3, Takeda S1, Aoki Y4. 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. 2Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan. 3Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. 4Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. tsugu56@ncnp.go.jp. KEYWORDS: Dystrophin; Eteplirsen; Exon skipping; Laminin-α2 chain; Merosin-deficient congenital muscular dystrophy type 1A (MDC1A); NS-065/NCNP-01; Phosphorodiamidate morpholino oligomer (PMO); dy 3K/dy 3K mouse PMID: 30171567 DOI:10.1007/978-1-4939-8651-4_36

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 16/50

50. Methods Mol Biol. 2018;1828:489-496. doi: 10.1007/978-1-4939-8651-4_31. Dysferlin Exon 32 Skipping in Patient Cells. Barthélémy F1,2, Courrier S3, Lévy N3,4, Krahn M3,4, Bartoli M5. 1Microbiology Immunology and Molecular Genetics, University of California Los Angeles, Los Angeles, CA, USA. 2Center for Duchenne Muscular Dystrophy, University of California Los Angeles, Los Angeles, CA, USA. 3Aix Marseille Univ, INSERM, Marseille Medical Genetics (MMG), Marseille, France. 4APHM, Département de génétique Médicale, Hôpital d'enfants la Timone, Marseille, France. 5Aix Marseille Univ, INSERM, Marseille Medical Genetics (MMG), Marseille, France. marc.bartoli@univ-amu.fr. KEYWORDS: Dysferlin; Exon skipping; Muscular dystrophies; RNA editing; Therapies PMID: 30171562 DOI:10.1007/978-1-4939-8651-4_31

51. Methods Mol Biol. 2018;1828:395-411. doi: 10.1007/978-1-4939-8651-4_25. Optimization of 2',4'-BNA/LNA-Based Oligonucleotides for Splicing Modulation In Vitro. Shimo T1, Obika S2. 1Graduate School of Pharmaceutical Sciences, Osaka University, 1-6 Yamadaoka, Suita, 565-0871, Osaka, Japan. 2Graduate School of Pharmaceutical Sciences, Osaka University, 1-6 Yamadaoka, Suita, 565-0871, Osaka, Japan. obika@phs.osaka-u.ac.jp. KEYWORDS: 2′,4′-Bridged nucleic acid (BNA)/locked nucleic acid (LNA); Duchenne muscular dystrophy; Exon skipping; In vitro minigene system; Screening; Splice-switching oligonucleotide (SSO) PMID: 30171556 DOI:10.1007/978-1-4939-8651-4_25

52. Methods Mol Biol. 2018;1828:381-394. doi: 10.1007/978-1-4939-8651-4_24. Use of Tricyclo-DNA Antisense Oligonucleotides for Exon Skipping. Relizani K1,2, Goyenvalle A3. 1Université de Versailles St-Quentin, U1179 INSERM, UFR des Sciences de la Santé-LIA BAHN CSM, Versailles, France. 2SQY Therapeutics, UFR des Sciences de la Santé, Montigny-le-Bretonneux, France. 3Université de Versailles St-Quentin, U1179 INSERM, UFR des Sciences de la Santé-LIA BAHN CSM, Versailles, France. aurelie.goyenvalle@uvsq.fr. KEYWORDS: Antisense oligonucleotides (AONs); Duchenne muscular dystrophy; Exon-skipping; Splice-switching approaches; Tricyclo-DNA PMID: 30171555 DOI:10.1007/978-1-4939-8651-4_24

53. Methods Mol Biol. 2018;1828:365-379. doi: 10.1007/978-1-4939-8651-4_23. In Vivo Evaluation of Multiple Exon Skipping with Peptide-PMOs in Cardiac and Skeletal Muscles in Dystrophic Dogs. Maruyama R1, Aoki Y2, Takeda S3, Yokota T4,5. 1Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. 2Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. 3Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. takeda@ncnp.go.jp. 4Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. toshifum@ualberta.ca. 5The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Endowed Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Canine X-linked muscular dystrophy (CXMD); Duchenne/Becker muscular dystrophies (DMD/BMD); Dystrophin; Eteplirsen (Exondys 51); Golden Retriever Muscular Dystrophy (GRMD); Golodirsen; Multiple exon skipping; NS-065/NCNP-01; Peptide-conjugated PMOs (PPMOs); Phosphorodiamidate morpholino oligomers (Morpholinos or PMOs) PMID: 30171554 DOI: 10.1007/978-1-4939-8651-4_23

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 17/50

54. Methods Mol Biol. 2018;1828:343-354. doi: 10.1007/978-1-4939-8651-4_21. Systemic Intravenous Administration of Antisense Therapeutics for Combinatorial Dystrophin and Myostatin Exon Splice Modulation. Lu-Nguyen N1, Dickson G2, Malerba A1. 1Centre of Gene and Cell Therapy, School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK. 2Centre of Gene and Cell Therapy, School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey, TW20 0EX, UK. g.dickson@rhul.ac.uk. KEYWORDS: Antisense oligonucleotides; Duchenne muscular dystrophy; Dystrophin; Exon skipping; Myostatin PMID: 30171552 DOI:10.1007/978-1-4939-8651-4_21

55. Methods Mol Biol. 2018;1828:327-342. doi: 10.1007/978-1-4939-8651-4_20. Use of Glucose-Fructose to Enhance the Exon Skipping Efficacy. Han G1, Gao X1, Yin H2. 1Department of Cell Biology & School of Medical Laboratory, Tianjin Medical University, Tianjin, China. 2Department of Cell Biology & School of Medical Laboratory, Tianjin Medical University, Tianjin, China. haifangyin@tmu.edu.cn. KEYWORDS: Delivery; Duchenne muscular dystrophy; Glucose–fructose; Oligonucleotides PMID: 30171551 DOI:10.1007/978-1-4939-8651-4_20

56. Methods Mol Biol. 2018;1828:309-326. doi: 10.1007/978-1-4939-8651-4_19. Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse. Barthelemy F1,2, Wang D1,2, Nelson SF1,3,4, Miceli MC5,6,7. 1Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA. 2Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA, USA. 3Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. 4Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. 5Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA. cmiceli@ucla.edu. 6Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA, USA. cmiceli@ucla.edu. 7Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine and College of Letters and Sciences, University of California, Los Angeles, Los Angeles, CA, USA. cmiceli@ucla.edu. KEYWORDS: Dantrolene; Dystrophin; Exon skipping; Muscular dystrophies; Therapies PMID: 30171550 DOI: 10.1007/978-1-4939-8651-4_19

57. Methods Mol Biol. 2018;1828:275-292. doi: 10.1007/978-1-4939-8651-4_17. In Vivo Evaluation of Single-Exon and Multiexon Skipping in mdx52 Mice. Mizobe Y1, Miyatake S1, Takizawa H1, Hara Y1, Yokota T2, Nakamura A3, Takeda S1, Aoki Y4. 1Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. 2Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. 3Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan. 4Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. tsugu56@ncnp.go.jp. KEYWORDS: Becker muscular dystrophy (BMD); Duchenne muscular dystrophy (DMD); Dystrophin; Eteplirsen (Exondys 51); Exon skipping; Multiexon skipping; Phosphorodiamidate morpholino oligomer (PMO); Vivo-morpholinos (vPMOs); mdx; mdx52 PMID: 30171548 DOI:10.1007/978-1-4939-8651-4_17

58. Methods Mol Biol. 2018;1828:263-273. doi: 10.1007/978-1-4939-8651-4_16. Systemic Injection of Peptide-PMOs into Humanized DMD Mice and Evaluation by RT-PCR and ELISA.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 18/50

Melo D1, Maruyama R1, Yokota T2,3. 1Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. 2Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense oligonucleotides (AOs); Antisense therapy; Duchenne/Becker muscular dystrophy (DMD/BMD); Enzyme-linked immunosorbent assay (ELISA); Eteplirsen; Exon skipping; Golodirsen; NS-065/NCNP-01; Peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO); Phosphorodiamidate morpholino oligomer (PMO) PMID: 30171547 DOI:10.1007/978-1-4939-8651-4_16

59. Methods Mol Biol. 2018;1828:249-262. doi: 10.1007/978-1-4939-8651-4_15. Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice. Hiller M1, Spitali P1, Datson N2, Aartsma-Rus A3. 1Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. 2BioMarin Nederland B.V., Leiden, The Netherlands. 3Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. a.m.rus@lumc.nl. KEYWORDS: Antisense oligonucleotides (AONs); Digital droplet PCR (ddPCR); Duchenne muscular dystrophy (DMD); Exon skipping; Humanized mouse model PMID: 30171546 DOI:10.1007/978-1-4939-8651-4_15

60. Methods Mol Biol. 2018;1828:231-247. doi: 10.1007/978-1-4939-8651-4_14. In Vivo Evaluation of Dystrophin Exon Skipping in mdx Mice. Wu B1, Wang M2, Shah S2, Lu QL3. 1McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC, USA. bo.wu@carolinashealthcare.org. 2McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC, USA. 3McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC, USA. qi.lu@carolinashealthcare.org. KEYWORDS: Dystrophin; Echocardiogram; Exon skipping; Grip strength; Hemodynamics; Immunochemistry; RT-PCR; Treadmill; Western blotting PMID: 30171545 DOI: 10.1007/978-1-4939-8651-4_14

61. Methods Mol Biol. 2018;1828:219-228. doi: 10.1007/978-1-4939-8651-4_13. Skipping of Duplicated Dystrophin Exons: In Vitro Induction and Assessment. Greer K1,2,3, Fletcher S1,2,3, Wilton SD4,5,6. 1Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, Australia. 2Perron Institute for Neurological and Translational Science, Perth, Western Australia, Australia. 3University of Western Australia, Perth, Western Australia, Australia. 4Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, Australia. swilton@ccg.murdoch.edu.au. 5Perron Institute for Neurological and Translational Science, Perth, Western Australia, Australia. swilton@ccg.murdoch.edu.au. 6University of Western Australia, Perth, Western Australia, Australia. swilton@ccg.murdoch.edu.au. KEYWORDS: Duplications; Dystrophin; Multiple exon skipping; PCR artifact; Strand slippage PMID: 30171544 DOI: 10.1007/978-1-4939-8651-4_13

62. Methods Mol Biol. 2018;1828:191-217. doi: 10.1007/978-1-4939-8651-4_12. Restoration of Dystrophin Protein Expression by Exon Skipping Utilizing CRISPR-Cas9 in Myoblasts Derived from DMD Patient iPS Cells. Ifuku M1, Iwabuchi KA1, Tanaka M1, Lung MSY1, Hotta A2. 1Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan. 2Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan. akitsu.hotta@cira.kyoto-u.ac.jp.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 19/50

KEYWORDS: CRISPR-Cas9; DMD; Dystrophin; Exon skipping; Gene editing; iPS cells PMID: 30171543 DOI:10.1007/978-1-4939-8651-4_12

63. Methods Mol Biol. 2018;1828:165-171. doi: 10.1007/978-1-4939-8651-4_10. Creation of DMD Muscle Cell Model Using CRISPR-Cas9 Genome Editing to Test the Efficacy of Antisense-Mediated Exon Skipping. Maruyama R1, Yokota T2,3. 1Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. 2Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. yokotama@ualberta.ca. 3The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. yokotama@ualberta.ca. KEYWORDS: 2′-O-methyl RNA; Antisense oligonucleotides (AOs); Clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9)-mediated genome editing; Duchenne/Becker muscular dystrophy (DMD/BMD); Exon skipping/inclusion; Golodirsen; NS-065/NCNP-01; Phosphorodiamidate morpholino oligomers (PMOs); Splice switching oligonucleotides (SSOs); The human rhabdomyosarcoma (RD) cell line PMID: 30171541 DOI:10.1007/978-1-4939-8651-4_10

64. Methods Mol Biol. 2018;1828:151-163. doi: 10.1007/978-1-4939-8651-4_9. In Vitro Multiexon Skipping by Antisense PMOs in Dystrophic Dog and Exon 7-Deleted DMD Patient. Nakamura A1,2, Aoki Y3, Tsoumpra M3, Yokota T4, Takeda S3. 1Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan. anakamu@shinshu-u.ac.jp. 2Department of Neurology, Matsumoto Medical Center, National Hospital Organization, Matsumoto, Japan. anakamu@shinshu-u.ac.jp. 3Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. 4Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. KEYWORDS: Antisense oligonucleotide; Canine X-linked muscular dystrophy in Japan (CXMDJ); Duchenne/Becker muscular dystrophies (DMD/BMD); Dystrophin; Exon skipping; Multiexon skipping; Phosphorodiamidate morpholino oligomers (PMOs) PMID: 30171540 DOI: 10.1007/978-1-4939-8651-4_9

65. Methods Mol Biol. 2018;1828:141-150. doi: 10.1007/978-1-4939-8651-4_8. Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45-55 Skipping Accompanied by Rescue of Dystrophin Expression. Lee JJA1, Saito T2, Duddy W3, Takeda S2, Yokota T4,5. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. 2Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. 3Northern Ireland Centre for Stratified Medicine, Altnagelvin Hospital Campus, Ulster University, Londonderry, UK. 4Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 5The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Direct reprogramming; Duchenne/Becker muscular dystrophy (DMD/BMD); Dystrophin; Eteplirsen; Exon skipping; Fibroblast; Golodirsen; Myotube; NS-065/NCNP-01; Phosphorodiamidate morpholino oligomer (PMO) PMID: 30171539 DOI:10.1007/978-1-4939-8651-4_8

66. Methods Mol Biol. 2018;1828:127-139. doi: 10.1007/978-1-4939-8651-4_7. Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells In Vitro. Lim KRQ1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 20/50

2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Clinical trial candidates; Cyclin-dependent-kinase 4 (Cdk4); Duchenne/Becker muscular dystrophy (DMD/BMD); Dystrophin quantification; Eteplirsen; Golodirsen; Human telomerase reverse transcriptase (hTERT); Immortalized DMD patient muscle cells; NS-065/NCNP-01; Primary muscle cells PMID: 30171538 DOI: 10.1007/978-1-4939-8651-4_7

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies 67. Tokai J Exp Clin Med. 2018 Sep 20;43(3):103-105.

A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. Homma K, Nagata E1, Hanano H, Uesugi T, Ohnuki Y, Matsuda S, Kazahari S, Takizawa S. 1Department of Neurology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan. enagata@is.icc.u-tokai.ac.jp. PMID: 30191544 Free full text

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy

(FSHD) 68. J Neurol. 2018 Sep 6. doi: 10.1007/s00415-018-9037-y. [Epub ahead of print]

Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers. Mul K1, Horlings CGC2, Vincenten SCC2, Voermans NC2, van Engelen BGM2, van Alfen N2. 1Department of Neurology and Clinical Neurophysiology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. karlien.mul@radboudumc.nl. 2Department of Neurology and Clinical Neurophysiology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. KEYWORDS: Biomarkers; Facioscapulohumeral muscular dystrophy; MRI; Muscle disorders; Ultrasound PMID: 30191320 DOI:10.1007/s00415-018-9037-y

69. Ann Neurol. 2018 Sep 4. doi: 10.1002/ana.25326. [Epub ahead of print] Facioscapulohumeral dystrophy in childhood: a nationwide natural history study. Goselink RJM1, Schreuder THA1, van Alfen N1, de Groot IJM2, Jansen M2, Lemmers RJLF3, van der Vliet PJ3, van der Stoep N4, Theelen T5, Voermans NC1, van der Maarel SM3, van Engelen BGM1, Erasmus CE. 1Department of Neurology, Donders Centre for Neuroscience, Radboud university medical centre, Nijmegen, The Netherlands. 2Department of Rehabilitation, Donders Centre for Neuroscience, Radboud university medical centre, Nijmegen, The Netherlands. 3Department of Human Genetics, Leiden University medical centre, Leiden, The Netherlands. 4Department of Clinical Genetics, Leiden University medical centre, Leiden, The Netherlands. 5Department of Ophthalmology, Radboud university medical centre, Nijmegen, The Netherlands. KEYWORDS: childhood; chromosome 4q35; early-onset FSHD; facioscapulohumeral dystrophy; genotype-phenotype PMID: 30179273 DOI:10.1002/ana.25326

Dystrophies myotoniques – Myotonic dystrophies 70. Neuromuscul Disord. 2018 Aug 4. pii: S0960-8966(18)31066-6. doi: 10.1016/j.nmd.2018.07.011.

[Epub ahead of print] Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats. Fiorentino G1, Esquinas AM2.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 21/50

1UOC di Fisiopatologia, Malattie e Riabilitazione Respiratoria, AO Ospedali dei Colli, Napoli PO Monaldi Ospedale, Italy. Electronic address: giuseppefiorentino1@gmail.com. 2Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain. PMID: 30190168 DOI:10.1016/j.nmd.2018.07.011

[1] G Boussaïd, K Wahbi, P Laforet, B Eymard, T Stojkovic, A Behin, et al. Genotype and other determinants of respiratory function in myotonic dystrophy type 1 Neuromuscul Disord, 28 (3) (2018 March), pp. 222-228

71. Front Neurol. 2018 Aug 21;9:646. doi: 10.3389/fneur.2018.00646. eCollection 2018. Current Progress in CNS Imaging of Myotonic Dystrophy. Minnerop M1,2, Gliem C3, Kornblum C3,4. 1Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany. 2Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Center for Movement Disorders and Neuromodulation, Heinrich-Heine University, Düsseldorf, Germany. 3Department of Neurology, University Hospital of Bonn, Bonn, Germany. 4Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany. KEYWORDS: DTI; MRI; PET; VBM; brain; fMRI; myotonic dystrophy; neuroimaging PMID: 30186217 PMCID:PMC6110944 DOI:10.3389/fneur.2018.00646 Free PMC Article

72. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Wood L1, Bassez G2, Bleyenheuft C3, Campbell C4, Cossette L5, Jimenez-Moreno AC6, Dai Y7, Dawkins H8, Manera JAD9, Dogan C2, El Sherif R10, Fossati B11, Graham C8, Hilbert J12, Kastreva K13, Kimura E14, Korngut L15, Kostera-Pruszczyk A16, Lindberg C17, Lindvall B17, Luebbe E12, Lusakowska A16, Mazanec R18, Meola G11, Orlando L19, Takahashi MP20, Peric S21, Puymirat J5, Rakocevic-Stojanovic V21, Rodrigues M22, Roxburgh R22, Schoser B23, Segovia S24, Shatillo A25, Thiele S23, Tournev I13, van Engelen B26, Vohanka S27, Lochmüller H28,29. 1Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. libby.wood@ncl.ac.uk. 2Centre de référence des maladies neuromusculaires, Hôpital Henri Mondor, Paris, France. 3Scientific Institute of Public Health, Brussels, Belgium. 4Western University, London, Canada. 5Centre de recherche du CHU de Québec, Université Laval, Quebec, Canada. 6Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. 7Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. 8Office of Population Health Genomics, Perth, Western Australia. 9Neuromuscular disorders Unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. 10Neuromuscular & Neuro-genetics Unit, Air Hospital, Cairo, Egypt. 11U.O. Neurology and Stroke Unit, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy. 12Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA. 13Department of Neurology, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria. 14Department of Promoting Clinical Trial and Translational Medicine, National Center for Neurology and Psychiatry, Translational Medical Center, Kodaira, Japan. 15University of Calgary, Calgary, Canada. 16Department of Neurology, Medical University of Warsaw, Warszawa, Poland. 17University Hospital Örebro, Örebro, Sweden. 18University Hospital Prague- Motol and Charles University Prague, Prague, Czech Republic. 19Muscular Dystrophy Association, Chicago, USA. 20Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Suita, Japan. 21Neurology Clinic, School of Medicine, University of Belgrade, Belgrade, Serbia. 22Neurology, Auckland City Hospital, Private Bag 92024, Auckland, 1142, New Zealand. 23Friedrich-Baur-Institute, Department of Neurology, Klinikum München, Munich, Germany. 24Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain. 25Institute of Neurology, Psychiatry and Narcology, Academy of medical science of Ukraine, Kharkiv, Ukraine. 26Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands. 27University Hospital and Masaryk University Brno, Brno, Czech Republic. 28Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 22/50

29Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. KEYWORDS: Clinical trials; Myotonic dystrophy; Registries; Trial readiness PMID: 30185236 PMCID:PMC6126043 DOI:10.1186/s13023-018-0889-0 Free PMC Article

73. Methods Mol Biol. 2018;1828:481-487. doi: 10.1007/978-1-4939-8651-4_30. Exon Skipping by Ultrasound-Enhanced Delivery of Morpholino with Bubble Liposomes for Myotonic Dystrophy Model Mice. Negishi Y1, Endo-Takahashi Y2, Ishiura S3. 1Department of Drug Delivery and Molecular Biopharmaceutics, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo, Japan. negishi@toyaku.ac.jp. 2Department of Drug Delivery and Molecular Biopharmaceutics, School of Pharmacy, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo, Japan. 3Department of Medical Life Systems, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, Kyoto, Japan. KEYWORDS: Antisense oligonucleotides; Bubble liposome; Exon skipping; Myotonic dystrophy type 1 (DM1); PMO; Ultrasound PMID: 30171561 DOI: 10.1007/978-1-4939-8651-4_30

74. Brain. 2018 Aug 29. doi: 10.1093/brain/awy231. [Epub ahead of print] Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial. Bassez G1,2,3, Audureau E4, Hogrel JY3, Arrouasse R5, Baghdoyan S6,7, Bhugaloo H5, Gourlay-Chu ML8, Le Corvoisier P5, Peschanski M6,7,9. 1Centre de Référence Neuromusculaire Nord-Est-Ile de France, AP-HP, CHU Henri-Mondor Créteil France. 2Sorbonne Université INSERM UMRS 974, AP-HP, Pitié-Salpêtrière Hospital, Paris France. 3Institut de Myologie, CHU Pitié-Salpêtrière Paris France. 4Public Health Department, AP-HP, Henri-Mondor Hospital; DHU A-TVB, IMRB-EA 7376 CEpiA UPEC Créteil France. 5INSERM CIC1430, AP-HP, CHU Henri-Mondor Créteil France. 6INSERM U861, I-Stem, Corbeil-Essonnes France. 7UEVE U861, I-Stem, Corbeil-Essonnes France. 8Institut des Biothérapies, Evry France. 9CECS, I-Stem, Corbeil-Essonnes France. PMID: 30169600 DOI: 10.1093/brain/awy231

75. Muscle Nerve. 2018 Aug 30. doi: 10.1002/mus.26331. [Epub ahead of print] The modified Dynamic Gait Index and Limits of Stability in Myotonic Dystrophy type 1. Pucillo EM1, McIntyre MM2, Pautler M2, Hung M3,4, Bounsanga J3, Voss MW3, Hayes H5, DiBella DL2, Trujillo C2, Dixon M2, Butterfield RJ2, Johnson NE2. 1Department of Physical Therapy, University of Saint Augustine Health Sciences, Saint Augustine, FL. 2Department of Neurology, University of Utah, Salt Lake City, UT. 3Department of Orthopaedics, University of Utah, Salt Lake City, UT. 4Division of Public Health, University of Utah, Salt Lake City, UT. 5Department of Physical Therapy and Athletic Training, University of Utah, Salt Lake City, UT. KEYWORDS: balance; falls; limits of stability; modified dynamic gait index; myotonic dystrophy PMID: 30160307 DOI:10.1002/mus.26331

Deux commentaires publiés sur JAMA Ophtalmology concernant l’article de Dalvin LA et al. publié en Mai dernier, suivi de la réponse de Dalvin LA : JAMA Ophthalmol. 2018 May 1;136(5):543-547. doi: 10.1001/jamaophthalmol.2018.0554. Uveal Melanoma Associated With Myotonic Dystrophy: A Report of 6 Cases.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 23/50

Dalvin LA1,2, Shields CL1, Pulido JS2,3, Sioufi K1, Cohen V4,5, Shields JA1. Disponible via MYOBASE http://www.myobase.org/index.php?lvl=notice_display&id=65261 PMID: 29596556 PMCID: PMC5876914 DOI : 10.1001/jamaophthalmol.2018.0554

76. JAMA Ophthalmol. 2018 Sep 6. doi: 10.1001/jamaophthalmol.2018.4053. [Epub ahead of print] Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. Rosa N1, De Bernardo M1, Politano L2. 1Department of Medicine Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno, Salerno, Italy. 2Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy. PMID: 30193301 DOI:10.1001/jamaophthalmol.2018.4053

77. JAMA Ophthalmol. 2018 Sep 6. doi: 10.1001/jamaophthalmol.2018.4056. [Epub ahead of print] Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. Silvestri G1,2, Rossi S1, Perna A1. 1Department of Geriatrics, Orthopaedic and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. 2Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy. PMID: 30193333 DOI:10.1001/jamaophthalmol.2018.4056

78. JAMA Ophthalmol. 2018 Sep 6. doi: 10.1001/jamaophthalmol.2018.4184. [Epub ahead of print] Clarification on Uveal Melanoma Associated With Myotonic Dystrophy-Reply. Dalvin LA1,2, Pulido JS2,3, Shields CL1. 1Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. 2Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. 3Department Molecular Medicine, Mayo Clinic, Rochester, Minnesota. PMID: 30193376 DOI:10.1001/jamaophthalmol.2018.4184

Fibrodysplasie ossifiante progressive – Fibrodysplasia ossificans progressiva 79. Zebrafish. 2018 Sep 5. doi: 10.1089/zeb.2018.1611. [Epub ahead of print]

Injury of Adult Zebrafish Expressing Acvr1lQ204D Does Not Result in Heterotopic Ossification. LaBonty M1,2, Pray N2, Yelick PC1,2. 1 Program in Cell, Molecular, and Developmental Biology, Sackler School of Graduate Biomedical Sciences, Tufts University School of Medicine , Boston, Massachusetts. 2 Division of Craniofacial and Molecular Genetics, Department of Orthodontics, Tufts University School of Dental Medicine , Boston, Massachusetts. KEYWORDS: activating ACVR1 mutations; fibrodysplasia ossificans progressiva; heterotopic ossification PMID: 30183553 DOI:10.1089/zeb.2018.1611

80. Methods Mol Biol. 2018;1828:497-502. doi: 10.1007/978-1-4939-8651-4_32. Morpholino-Mediated Exon Skipping Targeting Human ACVR1/ALK2 for Fibrodysplasia Ossificans Progressiva. Maruyama R1, Yokota T2,3. 1Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. yokotama@ualberta.ca. 2Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Endowed Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 24/50

KEYWORDS: ACVR1/ALK2; Bone morphogenetic protein (BMP) pathway; Eteplirsen (Exondys 51); Exon skipping; Fibrodysplasia ossificans progressiva (FOP); Morpholino; Musculoskeletal disorder; Palovarotene; Rapamycin; Retinoic acid receptor gamma (RARγ) selective agonist PMID: 30171563 DOI:10.1007/978-1-4939-8651-4_32

Maladie de Pompe – Pompe disease 81. Eur J Neurol. 2018 Oct;25(10):e111. doi: 10.1111/ene.13730.

Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment? Chien YH1,2, Lee NC1,2, Hwu WL1,2, Fang JY1. 1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. 2Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan. Dear Sir KEYWORDS: Pompe disease; acid α-glucosidase; enzyme replacement therapy; magnetic resonance imaging; pre-symptomatic hyperCKaemia PMID: 30192061 DOI: 10.1111/ene.13730

82. Multidiscip Respir Med. 2018 Sep 1;13:32. doi: 10.1186/s40248-018-0145-4. eCollection 2018. Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report. Menzella F1, Codeluppi L2, Lusuardi M3, Galeone C1, Valzania F2, Facciolongo N1. 1Department of Medical Specialties, Pneumology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia- IRCCS, Via Amendola 2, 42122 Reggio Emilia, Italy. 2Neuromotor & Rehabilitation Department, Neurology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia-IRCCS, Reggio Emilia, Italy. 3Unit of Respiratory Rehabilitation, Azienda USL di Reggio Emilia, S. Sebastiano Hospital, Correggio, Italy. KEYWORDS: Enzyme; Glycogen; Muscle biopsy; Respiratory failure; Ventilation PMID: 30186604 PMCID:PMC6119261 DOI:10.1186/s40248-018-0145-4 Free PMC Article

83. Mol Genet Metab Rep. 2018 Aug 28;17:1. doi: 10.1016/j.ymgmr.2018.08.003. eCollection 2018 Dec. Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Postfach 20, 1180 Vienna, Austria. KEYWORDS: Arteriopathy; Cardiomyopathy; Intracerebral bleeding; Late onset Pompe disease; Metabolic myopathy; Renal infarction PMID: 30175046 PMCID:PMC6116777 DOI:10.1016/j.ymgmr.2018.08.003 Free PMC Article

84. Eur J Paediatr Neurol. 2018 Aug 18. pii: S1090-3798(18)30178-8. doi: 10.1016/j.ejpn.2018.08.001. [Epub ahead of print]

Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care. Ricci F1, Brusa C2, Rossi F2, Rolle E2, Placentino V2, Berardinelli A3, Pagliardini V4, Porta F4, Spada M4, Mongini T5. 1Department of Pediatrics, Division of Child Neurology and Psychiatry, Turin University Hospital, Piazza Polonia 94, 10126, Turin, Italy. Electronic address: federica.ricci@unito.it. 2Department of Pediatrics, Division of Child Neurology and Psychiatry, Turin University Hospital, Piazza Polonia 94, 10126, Turin, Italy. 3Division of Childhood and Adolescence Neurology, IRCCS Mondino, via Mondino 2, 27100, Pavia, Italy. 4Department of Pediatrics, Division of Metabolic Diseases, Turin University Hospital, Piazza Polonia 94, 10126, Turin, Italy. 5Department of Neuroscience, Division of Neurology and Neuromuscular Diseases, Turin University Hospital, Corso Bramante 88/90, 10126, Turin, Italy. KEYWORDS: Children; Cognitive evaluation; Emerging phenotype; Motor function; Outcome measures; Pompe disease

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 25/50

PMID: 30166092 DOI:10.1016/j.ejpn.2018.08.001

85. J Inherit Metab Dis. 2018 Aug 28. doi: 10.1007/s10545-018-0243-7. [Epub ahead of print] Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. Semplicini C1,2, Letard P3, De Antonio M2, Taouagh N4, Perniconi B4, Bouhour F5, Echaniz-Laguna A6, Orlikowski D7,8, Sacconi S9,10, Salort-Campana E11, Solé G12,13, Zagnoli F14, Hamroun D15, Froissart R16, Caillaud C3,17, Laforêt P18,19; French Pompe Study Group. Collaborators (46) 1Department of Neurosciences, University of Padova, Azienda Ospedaliera di Padova, Padova, Italy. 2Centre de référence des pathologies neuromusculaires Nord-Est-Ile de France, Hôpital La Pitié-Salpêtrière, AP-HP, Paris, France. 3Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Universitaire Necker Enfants Malades, AP-HP, Paris, France. 4Institut de Myologie, Hôpital La Pitié-Salpétrière, AP-HP, Paris, France. 5Service ENMG et pathologies neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France. 6Department of Neurology, University Hospital Strasbourg, Strasbourg, France. 7Pôle de ventilation à domicile, AP-HP, Hôpital Raymond Poincaré, 92380, Garches, France. 8CIC 1429, INSERM, AP-HP, Hôpital Raymond Poincaré, 92380, Garches, France. 9Centre de référence des Maladies Neuromusculaires, Hôpital Archet, Nice, France. 10CNRS UMR7277, INSERM U1091, IBV-Institute of Biology Valrose, Faculté de Médecine, UNS Université Nice Sophia-Antipolis, Parc Valrose, Nice Cedex, France. 11Reference Center for Neuromuscular Diseases and ALS, La Timone University Hospital, Aix-Marseille University, Marseille, France. 12Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000, Bordeaux, France. 13National reference center 'maladies neuromusculaires du grand sud-ouest,' CHU Bordeaux (Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000, Bordeaux, France. 14CHRU Cavale-Blanche, boulevard Tanguy-Prigent, 29200, Brest, France. 15Direction de la Recherche et de l'Innovation, CHRU de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France. 16Service de Biochimie et Biologie Moléculaire, Centre de Biologie et Pathologie Est, Hospices civils de Lyon, Bron, France. 17INSERM U1151, Institut Necker Enfants Malades, and Université Paris Descartes, Sorbonne Paris Cité, Paris, France. 18Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380, Garches, France. pascal.laforet@aphp.fr. 19INSERM U1179, END-ICAP, équipe Biothérapies des Maladies du Système Neuromusculaire, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France. pascal.laforet@aphp.fr. PMID: 30155607 DOI:10.1007/s10545-018-0243-7

86. J Neuromuscul Dis. 2018 Aug 31. doi: 10.3233/JND-180336. [Epub ahead of print] Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses. Remiche G1, Lukacs Z2, Kasper DC3, Abramowicz M4, Pandolfo M1. 1Department of Neurology, Centre de Référence Neuromusculaire, Hôpital Erasme, Université Libre de Bruxelles, Route de Lennik 808, 1070 Brussels, Belgium. 2Newborn Screening and Metabolic Diagnostics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. 3ARCHIMED Life Science GmbH, Vienna, Austria. ARCHIMEDlife Laboratories, Leberstraße 20/2 1110 Vienna, Austria. 4Department of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles, Route de Lennik 808, 1070 Brussels, Belgium. KEYWORDS: Glycogen storage disease type II (GSDII); assay; dried blood spot; epidemiology; screening PMID: 30175981 DOI:10.3233/JND-180336

Myasthénie autoimmune – Myasthenia gravis 87. Rheumatology (Oxford). 2018 Sep 4. doi: 10.1093/rheumatology/key236. [Epub ahead of print]

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 26/50

Thymectomy in patients with myasthenia gravis increases the risk of autoimmune rheumatic diseases: a nationwide cohort study. Chang CC1,2, Lin TM2, Chang YS1,3, Chen WS4, Sheu JJ5,6, Chen YH7, Chen JH7,8. 1Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei. 2Division of Rheumatology, Immunology and Allergy, Department of Internal Medicine, Taipei Medical University Hospital, Taipei. 3Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Shuang Ho Hospital, Taipei Medical University, New Taipei City. 4Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Taipei Veterans General Hospital, National Yang-Ming University, Taipei. 5Department of Neurology, Taipei Medical University Hospital, Taipei. 6Department of Neurology, School of Medicine, College of Medicine, Taipei Medical University, Taipei. 7Biostatistics Center, Taipei, Taiwan. 8Graduate Institute of Data Science, College of Management, Taipei Medical University, Taipei, Taiwan. PMID: 30189048 DOI:10.1093/rheumatology/key236

88. Yonsei Med J. 2018 Oct;59(8):1008-1009. doi: 10.3349/ymj.2018.59.8.1008. Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Vienna, Austria. fifigs1@yahoo.de. Comment on Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. [Yonsei Med J. 2018] PMID: 30187710 PMCID: PMC6127425 [Available on 2018-10-01] DOI: 10.3349/ymj.2018.59.8.1008 Free full text

89. Yonsei Med J. 2018 Oct;59(8):1010-1011. doi: 10.3349/ymj.2018.59.8.1010. The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations. Kim K1, Choi YC2. 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac. PMID: 30187711 PMCID: PMC6127422 [Available on 2018-10-01] DOI: 10.3349/ymj.2018.59.8.1010 Free full text

Iran J Neurol. 2018 Jan 5;17(1):1-5. Clinical outcome of thymectomy in myasthenia gravis patients: A report from Iran. Seyfari B1, Fatehi F2, Shojaiefard A1, Jafari M1, Ghorbani-Abdehgah A1, Nasiri S1, Yaghoobi-Notash A1, Molavi B1, Latif AH1, Eslamian R1, Mir A1,3, Soroush A1. 1Research Center for Improvement of Surgical Outcomes and Procedures, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. 2Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran. 3Department of Surgery, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. KEYWORDS: Clinical Outcome; Myasthenia Gravis; Thymectomy PMID: 30186552 PMCID:PMC6121207 Free PMC Article

90. J Community Hosp Intern Med Perspect. 2018 Jun 22;8(4):230-232. doi: 10.1080/20009666.2018.1487245. eCollection 2018.

A diagnosis of late-onset Myasthenia gravis unmasked by topical antibiotics.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 27/50

Hussain N1, Hussain F2, Haque D3, Chittivelu S4. 1Department of Internal Medicine, University of Illinois College of Medicine at Peoria, Peoria, USA. 2Internal Medicine, Advanced Cancer Care Center Illinois, Aurora, USA. 3Windsor University School of Medicine, Cayon, St Kitts and Nevis. 4Department of Critical Care/Pulmonary Medicine, University of Illinois College of Medicine at Peoria, Peoria, USA. KEYWORDS: Myasthenia gravis; aminoglycosides; antibiotics; eye drops; neuromuscular; tobramycin PMID: 30181833 PMCID: PMC6116301 DOI:10.1080/20009666.2018.1487245 Free PMC Article

91. Curr Opin Neurol. 2018 Oct;31(5):517-525. doi: 10.1097/WCO.0000000000000596. Myasthenia gravis: from autoantibodies to therapy. Mantegazza R1, Bernasconi P, Cavalcante P. 1Neurology IV, Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto Neurologico 'Carlo Besta,' Milan, Italy. PMID: 30156572 DOI:10.1097/WCO.0000000000000596

92. Acta Neurol Scand. 2018 Aug 28. doi: 10.1111/ane.13017. [Epub ahead of print] Life-style factors and disease-specific differences in subgroups of Swedish Myasthenia Gravis. Westerberg E1, Landtblom AM2, Punga AR1. 1Department of Neuroscience, Uppsala University, Sweden. 2Clinical Neurophysiology and Neurology, Uppsala University, Sweden. KEYWORDS: Early onset MG; MG subgroups; Myasthenia Gravis; environmental factors; fatigue; late onset MG; lifestyle PMID: 30155967 DOI:10.1111/ane.13017

93. Oxf Med Case Reports. 2018 Aug 11;2018(8):omy052. doi: 10.1093/omcr/omy052. eCollection 2018 Aug.

Misdiagnosis of myasthenia gravis presenting with tongue and palatal weakness. Marshal M1, Mustafa M1, Crowley P1, McGovern R1, Ahern E1, Ragab I2. 1Internal Medicine, St. Luke's Hospital, Co. Kilkenny, Ireland. 2Internal Medicine, University Hospital Limerick Co. Limerick, Ireland. PMID: 30151219 PMCID:PMC6101517 DOI:10.1093/omcr/omy052 Free PMC Article

Myopathies congénitales – Congenital myopathies 94. J Neurol Sci. 2018 Oct 15;393:142-144. doi: 10.1016/j.jns.2018.08.015. Epub 2018 Aug 17.

Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation. Tadokoro K1, Ohta Y1, Sasaki R1, Takahashi Y1, Sato K1, Shang J1, Takemoto M1, Hishikawa N1, Yamashita T1, Nakamura K2, Nishino I3, Abe K4. 1Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. 2Department of Cardiovascular Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. 3Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan. 4Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. Electronic address: p86m6fma@okayama-u.ac.jp. KEYWORDS: ACTA1; Congenital fiber-type disproportion; Dilated cardiomyopathy; p.G48A PMID:30195123 DOI:10.1016/j.jns.2018.08.015

95. Hum Mutat. 2018 Aug 31. doi: 10.1002/humu.23635. [Epub ahead of print]

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 28/50

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Zaharieva I1, Sarkozy A1,2, Munot P1,2, Manzur A1,2, O'Grady G3,4, Rendu J5, Malfatti E6, Amthor H7,8, Servais L9, Urtizberea JA10, Neto OA11,12, Zanoteli E11, Donkervoort S12, Taylor J13, Dixon J14, Poke G15, Foley AR12, Holmes C2, Williams G2, Holder M16, Yum S17, Medne L18, Quijano-Roy S8,19, Romero NB6, Fauré J5, Feng L1, Bastaki L20, Davis MR21, Phadke R1,2, Sewry CA1,22, Bönnemann CG12, Jungbluth H16,23,24, Bachmann C25, Treves S25,26, Muntoni F1,2,27. 1Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, UK. 2Great Ormond Street Hospital, London, UK. 3Children's Hospital at Westmead, Institute of Neuroscience and Muscle Research, Locked Bag 4001, Westmead, Sydney, NSW, Australia. 4University of Sydney, Discipline of Paediatrics and Child Health Clinical School, Children's Hospital at Westmead, Locked Bag 4001, Westmead, Sydney, NSW, Australia. 5Université Grenoble Alpes, UFR de Médecine, Centre Hospitalier Universitaire Grenoble Alpes, UM Biochimie Génétique et Moléculaire, Inserm, U1216, F-38000, Grenoble, France. 6Neuromuscular Morphology Unit and Neuromuscular Pathology Reference Center Paris-Est, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. 7Versailles Saint-Quentin-en-Yvelines University, INSERM U1179, Montigny-le-Bretonneux, France. 8Pediatric Department, University Hospital Raymond Poincaré, Garches, France. 9Institute I-Motion, Hôpital Armand Trousseau, Paris, France. 10Centre de Compétence Neuromusculaire, FILNEMUS, Hôpital Marin, Hendaye, France. 11Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. 12Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, MD, USA. 13Genetic Health Service New Zealand, Auckland, New Zealand. 14Genetic Health Service New Zealand, Christchurch, New Zealand. 15Genetic Health Service New Zealand, Wellington, New Zealand. 16Department of Clinical Genetics, Guy's Hospital, London, UK. 17Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, USA. 18Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, USA. 19Université de Versailles, Centre de Référence Neuromusculaire GNMH, FILNEMUS, France. 20Kuwait Medical Genetics Centre, Maternity Hospital, Safat, Kuwait. 21Department of Diagnostic Genomics, Pathwest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia. 22Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK. 23Randall Division for Cell and Molecular Biophysics, Muscle Signaling Section, King'sCollege, London, UK. 24Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK. 25Department of Anesthesia and Biomedicine, University Hospital Basel, Basel, Switzerland. 26Department of Life Sciences, University of Ferrara, 44100 Ferrara, Italy. 27NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK. KEYWORDS: STAC3; congenital myopathy; excitation-contraction coupling ; malignant hyperthermia PMID: 30168660 DOI: 10.1002/humu.23635

96. Acta Neuropathol Commun. 2018 Aug 29;6(1):83. doi: 10.1186/s40478-018-0589-y. A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Wang H1,2, Schänzer A3, Kampschulte B4, Daimagüler HS1,2, Logeswaran T5, Schlierbach H3, Petzinger J4, Ehrhardt H4, Hahn A6, Cirak S7,8. 1Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. 2Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. 3Institute of Neuropathology, Justus Liebig University Giessen, Arndtsr.16, 35392, Giessen, Germany. 4Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany. 5Department of Pediatric Cardiology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany. 6Department of Child Neurology, Center of Child and Adolescent Medicine, Justus Liebig University Giessen, 35392, Giessen, Germany. 7Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. sebahattin.cirak@uk-koeln.de. 8Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. sebahattin.cirak@uk-koeln.de.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 29/50

PMID: 30157964 PMCID:PMC6114030 DOI:10.1186/s40478-018-0589-y Free PMC Article

97. J Neurol. 2018 Aug 28. doi: 10.1007/s00415-018-9033-2. [Epub ahead of print] Correlation of phenotype with genotype and protein structure in RYR1-related disorders. Todd JJ1, Sagar V2, Lawal TA3, Allen C3, Razaqyar MS3, Shelton MS3, Chrismer IC3, Zhang X3, Cosgrove MM3, Kuo A3, Vasavada R4, Jain MS4, Waite M4, Rajapakse D2, Witherspoon JW3, Wistow G2, Meilleur KG3. 1Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA. joshua.todd@nih.gov. 2Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Bethesda, MD, USA. 3Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA. 4Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, USA. KEYWORDS: Genotype-phenotype; Myopathy; Neuromuscular disease; RyR1; Structure-function PMID: 30155738 DOI:10.1007/s00415-018-9033-2

98. Case Rep Genet. 2018 Aug 1;2018:6184185. doi: 10.1155/2018/6184185. eCollection 2018. A Rare Case of Severe Congenital RYR1-Associated Myopathy. Laforgia N1, Capozza M1, De Cosmo L1, Di Mauro A1, Baldassarre ME1, Mercadante F2, Torella AL3, Nigro V3, Resta N2. 1Neonatology and Neonatal Intensive Care Unit, Department of Biomedical Science and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, Italy. 2Medical Genetics Unit, Department of Biomedical Sciences and Human Oncology, "Aldo Moro" University of Bari, Policlinico Hospital, Piazza Giulio Cesare n. 11, 70124 Bari, Italy. 3Medical Genetics Laboratory, Department of Precision Medicine, "L.Vanvitelli" University of Campania, Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. PMID: 30155320 PMCID:PMC6092990 DOI:10.1155/2018/6184185 Free PMC Article

99. Neuromuscul Disord. 2018 Jul 2. pii: S0960-8966(17)31539-0. doi: 10.1016/j.nmd.2018.06.010. [Epub ahead of print]

New variant of necklace fibres display peculiar lysosomal structures and mitophagy. Rinnenthal JL1, Dittmayer C2, Irlbacher K3, Wacker I4, Schröder R5, Goebel HH2, Butori C6, Villa L6, Sacconi S7, Stenzel W8. 1Department of Pathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany. 2Department of Neuropathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany. 3Department of Neurology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany. 4Cryo EM, CAM, Universität Heidelberg, Im Neuenheimer Feld 225 69120 Heidelberg, Germany. 5Cryo EM, BioQuant, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 225 69120 Heidelberg, Germany. 6Department of Pathology, CHU de Nice, University Côte d'Azur, Hopital Saint Roch 5 rue Pierre Devoluy, France. 7Peripheral Nervous System, Muscle and ALS Department, Institute for Research on Cancer and Aging of Nice (IRCAN), CNRS UMR 7284, INSERM U1081, University Côte d'Azur, CHU Nice, 30, Avenue de la Voie Romaine, France. 8Department of Neuropathology, Charité - Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany. Electronic address: werner.stenzel@charite.de. KEYWORDS: 3D electron microscopy; Centronuclear myopathy; DNM2; MTM1; Necklace fibres PMID: 30149909 DOI:10.1016/j.nmd.2018.06.010

Myopathies distales – Distal myopathies 100. Muscle Nerve. 2018 Sep 7. doi: 10.1002/mus.26337. [Epub ahead of print]

GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence and clinical description. Alrohaif H1,2, Pogoryelove O1, Al-Ajmi A3, Aljeryan LA2, Alrashidi NH2, Alefasi SA2, Urtizberea A4, Lochmüller H1,5,6, Bastaki L2.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 30/50

1John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom. 2Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait. 3Department of Neurology, Jahra Hospital, Jahra, Kuwait. 4Centre Neuromusculaire, Filnemus, Hopital Marin, 64700 Hendaye, France. 5Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany. 6Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. KEYWORDS: Bedouins; Distal myopathy; GNE myopathy; Neuromuscular disorders; Prevalence; founder mutation PMID: 30192030 DOI:10.1002/mus.26337

101. Muscle Nerve. 2018 Aug 31. doi: 10.1002/mus.26332. [Epub ahead of print] The Unfolding Spectrum of Inherited Distal Myopathies. Milone M1, Liewluck T1. 1Department of Neurology, Mayo Clinic, Rochester, MN. KEYWORDS: distal myopathy; multisystem proteinopathy; myofibrillar myopathy; neuromyopathy; rimmed vacuoles PMID: 30171629 DOI:10.1002/mus.26332

102. Neuromuscul Disord. 2018 Jul 26. pii: S0960-8966(18)30445-0. doi: 10.1016/j.nmd.2018.07.006. [Epub ahead of print]

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Carbonell-Corvillo P1, Tristán-Clavijo E2, Cabrera-Serrano M3, Servián-Morilla E1, García-Martín G4, Villarreal-Pérez L1, Rivas-Infante E5, Area-Gómez E6, Chamorro-Muñoz MI4, Gil-Gálvez A7, Miranda-Vizuete A7, Martinez-Mir A2, Laing N8, Paradas C9. 1Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/ Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain. 2Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain. 3Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/ Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Australia. 4Department of Neurology, Hospital Universitario Virgen de la Victoria, Málaga, Spain. 5Department of Neuropathology, Hospital U. Virgen del Rocío/ Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain. 6Department of Neurology, Columbia University Medical Center, New York, NY, USA. 7Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain. 8Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Australia. 9Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/ Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain. Electronic address: cparadas@us.es. KEYWORDS: Distal myopathy; Founder mutation; Genetic linkage analysis; MYH7; Muscle MRI PMID: 30166250 DOI:10.1016/j.nmd.2018.07.006

103. J Cell Mol Med. 2018 Aug 29. doi: 10.1111/jcmm.13827. [Epub ahead of print] Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. Wu Y1,2, Yuan L1, Guo Y1,3, Lu A4, Zheng W5, Xu H1, Yang Y5, Hu P6, Gu S5, Wang B1, Deng H1. 1Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China. 2Department of Clinical Laboratory, The Third Xiangya Hospital, Central South University, Changsha, China. 3Department of Medical Information, Information Security and Big Data Research Institute, Central South University, Changsha, China. 4Department of Orthopedics, The Third Xiangya Hospital, Central South University, Changsha, China. 5Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China. 6Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, China. KEYWORDS: GNE myopathy; homozygous; missense mutation; the GNE gene PMID: 30160005 DOI:10.1111/jcmm.13827 Free full text

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 31/50

Myopathies inflammatoires – Inflammatory myopathies 104. Muscle Nerve. 2018 Sep 8. doi: 10.1002/mus.26341. [Epub ahead of print]

Inflammatory myopathies following allogeneic stem cell transplantation. New-Tolley J1, Smith C2, Koszyca B2, Otto S2, Maundrell A3, Bardy P4, Hiwase D4, Yong ASM1, Lewis I1, Limaye V3. 1University of Adelaide, North Terrace, Adelaide, South Australia 5000, Australia. 2SA Pathology, Adelaide, Australia. 3Department of Rheumatology, Royal Adelaide Hospital, Port Road, Adelaide, South Australia 5000, Australia. 4Department of Haematology, Royal Adelaide Hospital, Port Road, Adelaide, South Australia 5000. KEYWORDS: graft-versus-host disease; inflammatory myopathy; myositis; stem cell transplant; weakness PMID: 30194844 DOI: 10.1002/mus.26341

105. Muscle Nerve. 2018 Sep 7. doi: 10.1002/mus.26336. [Epub ahead of print] PROTON PUMP INHIBITORS ARE NOT ASSOCIATED WITH INFLAMMATORY MYOPATHIES: A CASE CONTROL STUDY. Khoo T1, Caughey GE2,3, Hill C4,5,6, Limaye V4,5,6. 1Central Adelaide Local Health Network, Adelaide, Australia. 2Department of Clinical Pharmacology, Royal Adelaide Hospital, Australia. 3Discipline of Pharmacology, Adelaide Medical School, University of Adelaide, Australia. 4Rheumatology Unit, The Queen Elizabeth Hospital, Australia. 5Rheumatology Unit, Royal Adelaide Hospital. 6Discipline of Medicine, School of Medicine, University of Adelaide, Australia. KEYWORDS: Drug side effect; Inflammatory myopathy; Myositis; Proton pump inhibitors; Statin PMID: 30192022 DOI:10.1002/mus.26336

106. Clin Rheumatol. 2018 Aug 25. doi: 10.1007/s10067-018-4267-z. [Epub ahead of print] Myositis autoantibody profiles and their clinical associations in Greek patients with inflammatory myopathies. Zampeli E1, Venetsanopoulou A2, Argyropoulou OD2, Mavragani CP2,3, Tektonidou MG4, Vlachoyiannopoulos PG2, Tzioufas AG2, Skopouli FN5, Moutsopoulos HM6,2,7. 1Institute for Systemic Autoimmune and Neurological Diseases, Athens, Greece. zampelieva@gmail.com. 2Department of Pathophysiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece. 3Department of Physiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece. 4First Department of Propaedeutic Internal Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece. 5Department of Internal Medicine and Clinical Immunology, Euroclinic Hospital, Athens, Greece. 6Institute for Systemic Autoimmune and Neurological Diseases, Athens, Greece. 7Academy of Athens, Athens, Greece. KEYWORDS: Dermatomyositis; Idiopathic inflammatory myopathies; Myositis-associated autoantibodies; Myositis-specific autoantibodies; Polymyositis PMID: 30145635 DOI:10.1007/s10067-018-4267-z

107. Clin Rheumatol. 2018 Aug 25. doi: 10.1007/s10067-018-4257-1. [Epub ahead of print] Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population. Chen S1,2, Wen X1, Wang Q1, Li J1, Li Y1, Li L1, Yuan H2, Zhang F1, Li Y3,4. 1Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 32/50

2Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. 3Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. yongzhelipumch@126.com. 4Department of Rheumatology and Clinical Immunology, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuai Fu Yuan, Eastern District, Beijing, 100730, China. yongzhelipumch@126.com. KEYWORDS: Association; BANK1; Dermatomyositis; Polymyositis; rs3733197 PMID: 30145638 DOI:10.1007/s10067-018-4257-1

108. Int J Rheum Dis. 2018 Aug;21(8):1619-1626. doi: 10.1111/1756-185X.13350. Targeted capture sequencing identifies novel genetic variations in Chinese patients with idiopathic inflammatory myopathies. Peng QL1, Lin JM2, Zhang YB3, Zhang XZ1, Wang PP2, Wu TT2, Yu J2, Dong XQ4, Gu ML2,5, Wang GC1. 1Department of Rheumatology, Beijing Key Lab for Immune-Mediated Inflammatory Diseases, China-Japan Friendship Hospital, Beijing, China. 2CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences (CAS), Beijing, China. 3Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China. 4Alpert Medical School of Brown University, Providence, Rhode Island. 5Joint Laboratory for Translational Medicine Research, Beijing Institute of Genomics, Chinese Academy of Sciences & Liaocheng People's Hospital, Liaocheng, China. KEYWORDS: dermatomyositis; gene polymorphism; human leukocyte antigen polymyositis PMID: 30146738 DOI:10.1111/1756-185X.13350

109. Int J Rheum Dis. 2018 Aug;21(8):1627-1633. doi: 10.1111/1756-185X.13352.

Long-term follow-up of 76 Iranian patients with idiopathic inflammatory myopathies. Hajialilo M1, Ghorbanihaghjo A2, Khabbazi A1, Kolahi S1, Jafari Nakhjavani MR1, Ebrahimi AA1, Zareh H1, Malek Mahdavi A1. 1Connective Tissue Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. 2Biotechnology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. KEYWORDS: dermatomyositis; long-term follow-up; polymyositis PMID: 30146744 DOI:10.1111/1756-185X.13352

110. Rheumatology (Oxford). 2018 Aug 28. doi: 10.1093/rheumatology/key257. [Epub ahead of print] Significance of nailfold videocapillaroscopy in patients with idiopathic inflammatory myopathies. Kubo S1, Todoroki Y2, Nakayamada S1, Nakano K1, Satoh M3, Nawata A4, Satoh Y5, Miyagawa I1, Saito K6, Smith V7,8, Cutolo M9, Tanaka Y1. 1The First Department of Internal Medicine, University of Occupational and Environmental Health Kitakyushu, Fukuoka, Japan. 2Wakamatsu Hospital of the University of Occupational and Environmental Health Kitakyushu, Fukuoka, Japan. 3Department of Clinical Nursing, School of Health Sciences, University of Occupational and Environmental Health Kitakyushu, Fukuoka, Japan. 4Department of Pathology, University of Occupational and Environmental Health Kitakyushu, Fukuoka, Japan. 5Department of Internal Medicine, Kitakyushu General Hospital, Kitakyushu, Japan. 6Department of Internal Medicine, Tobata General Hospital, Kitakyushu, Japan. 7Department of Internal Medicine, Ghent University, Ghent, Belgium. 8Department of Rheumatology, Ghent University Hospital, Ghent, Belgium. 9Research Laboratories and Academic Division of Rheumatology, Department of Internal Medicine, University of Genova, San Martino Polyclinic Hospital, Geneva, Italy. PMID: 30169697 DOI:10.1093/rheumatology/key257

111. Rheumatology (Sunnyvale). 2018;8(2). pii: 238. doi: 10.4172/2161-1149.1000238. Epub 2018 May 31.

Tacrolimus-Induced Remission in Drug Resistant Inflammatory Myopathy: A Case Series.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 33/50

Rotella K1, Alvarez MR1, Saperstein Y1, Bhamra MS1, Leon SZ1, Feoktiztov A1, MFarlane I1. 1Division of Rheumatology, Department of Medicine, Downstate Medical Center/Health + Hospitals Kings County, State University of New York, Brooklyn, NY, USA. KEYWORDS: Dermatomyositis; Mycophenolate mofetil; Necrotizing myopathy; Refractory idiopathic inflammatory myopathie; Tacrolimus PMID: 30159206 PMCID: PMC6110280 DOI:10.4172/2161-1149.1000238 Free PMC Article

112. Arthritis Res Ther. 2018 Aug 29;20(1):188. doi: 10.1186/s13075-018-1688-7. T-cell transcriptomics from peripheral blood highlights differences between polymyositis and dermatomyositis patients. Houtman M1, Ekholm L2, Hesselberg E2, Chemin K2, Malmström V2, Reed AM3, Lundberg IE2, Padyukov L2. 1Division of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. miranda.houtman@ki.se. 2Division of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. 3Department of Pediatrics, Duke Children's Hospital, Duke University Medical Center, Durham, USA. KEYWORDS: CD4+ T cells; CD8+ T cells; Dermatomyositis; Differential gene expression; Idiopathic inflammatory myopathies; Polymyositis; RNA sequencing; T cells PMID: 30157932 PMCID:PMC6116372 DOI:10.1186/s13075-018-1688-7 Free PMC Article

113. Curr Opin Rheumatol. 2018 Aug 24. doi: 10.1097/BOR.0000000000000540. [Epub ahead of print] Dermatomyositis etiopathogenesis: a rebel soldier in the muscle. Pinal-Fernandez I1,2, Mammen AL1,2. 1Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda. 2Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. PMID: 30148802 DOI:10.1097/BOR.0000000000000540

114. Int J Womens Dermatol. 2018 Jun 23;4(3):170-173. doi: 10.1016/j.ijwd.2018.03.004. eCollection 2018 Sep.

Eczematous reaction to IVIG for the treatment of dermatomyositis. Berk-Krauss J1,2, Lee K3, Lo Sicco KI1, Liebman TN1. 1The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York. 2Yale School of Medicine, New Haven, Connecticut. 3Division of Rheumatology, Department of Medicine, New York University School of Medicine, New York, New York. KEYWORDS: dermatomyositis; drug reaction; eczematous skin eruption; immunomodulators; intravenous immunoglobulin; systemic steroid medications PMID: 30175220 PMCID:PMC6116829 DOI:10.1016/j.ijwd.2018.03.004 Free PMC Article

115. Clin Radiol. 2018 Aug 29. pii: S0009-9260(18)30392-1. doi: 10.1016/j.crad.2018.07.106. [Epub ahead of print]

T2 mapping in dermatomyositis/polymyositis and correlation with clinical parameters. Ran J1, Ji S2, Morelli JN3, Wu G1, Li X4. 1Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. 2Department of Neurology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. 3Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 4Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. Electronic address: lilyboston2002@sina.com. PMID: 30172348 DOI:10.1016/j.crad.2018.07.106

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 34/50

116. Am J Case Rep. 2018 Aug 28;19:1025-1029. doi: 10.12659/AJCR.910283. Aortoesophageal Fistula Causing Massive Gastrointestinal Bleeding and Death in a Patient with Dermatomyositis: A Case Report. Ju TR1, Lee CC2, Lin YC1. 1Department of Pulmonary and Critical Care Medicine, China Medical University Hospital, Taichung, Taiwan. 2Department of Critical Care Medicine, Oregon Health Science University Hospital, Portland, OR, USA. PMID: 30150607 PMCID:PMC6122059 DOI:10.12659/AJCR.910283 Free PMC Article

117. Respir Investig. 2018 Aug 24. pii: S2212-5345(18)30196-5. doi: 10.1016/j.resinv.2018.07.007. [Epub ahead of print]

Low positive titer of anti-melanoma differentiation-associated gene 5 antibody is not associated with a poor long-term outcome of interstitial lung disease in patients with dermatomyositis. Sakamoto S1, Okamoto M2, Kaieda S3, Fujimoto K4, Nagata S5, Tominaga M6, Nakamura M7, Zaizen Y8, Nouno T9, Koga T10, Kawayama T11, Kuwana M12, Ida H13, Hoshino T14. 1Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: sakamoto_satoshi@med.kurume-u.ac.jp. 2Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: okamoto_masaki@med.kurume-u.ac.jp. 3Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: kaieda@med.kurume-u.ac.jp. 4Department of Radiology and Center for Diagnostic Imaging, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: kimichan@med.kurume-u.ac.jp. 5Department of Radiology and Center for Diagnostic Imaging, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: sn4735@med.kurume-u.ac.jp. 6Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: tominaga_masaki@med.kurume-u.ac.jp. 7Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: nakamura_masayuki@med.kurume-u.ac.jp. 8Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: zaizen_yoshiaki@med.kurume-u.ac.jp. 9Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: nouno_takashi@med.kurume-u.ac.jp. 10Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: koga_takuma@med.kurume-u.ac.jp. 11Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: kawayama_tomotaka@med.kurume-u.ac.jp. 12Department of Allergy and Rheumatology, Nippon Medical School, Sendagi 1-1-5, Bunkyo-ku, Tokyo 113-8603, Japan. Electronic address: kuwanam@nms.ac.jp. 13Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: ida@med.kurume-u.ac.jp. 14Division of Respirology, Neurology, and Rheumatology, Department of Internal Medicine, Kurume University School of Medicine, Asahi-machi 67, Kurume, Fukuoka 830-0011, Japan. Electronic address: hoshino@med.kurume-u.ac.jp. KEYWORDS: Anti-melanoma differentiation-associated gene 5 antibody; Autoimmune disease; Dermatomyositis; Interstitial lung disease; Rapidly progressive interstitial lung disease PMID: 30150008 DOI: 10.1016/j.resinv.2018.07.007

118. Clin Exp Rheumatol. 2018 Jul 19. [Epub ahead of print] Feasibility, safety and efficacy of exercise training in immune-mediated necrotising myopathies: a quasi-experimental prospective study.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 35/50

de Souza JM1, de Oliveira DS1, Perin LA1, Misse RG1, Dos Santos AM1, Gualano B2, de Sá Pinto AL1, Roschel H2, Lima FR1, Shinjo SK3. 1Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Brazil. 2Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo; and Applied Physiology & Nutrition Research Group, Universidade de Sao Paulo, Brazil. 3Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Brazil. samuel.shinjo@gmail.com. PMID:30148431

119. Ann Rheum Dis. 2018 Sep 5. pii: annrheumdis-2018-213777. doi: 10.1136/annrheumdis-2018-213777. [Epub ahead of print]

Pre-existing antiacetylcholine receptor autoantibodies and B cell lymphopaenia are associated with the development of myositis in patients with thymoma treated with avelumab, an immune checkpoint inhibitor targeting programmed death-ligand 1. Mammen AL#1, Rajan A#2, Pak K3, Lehky T4, Casciola-Rosen L5, Donahue RN6, Lepone LM6, Zekeridou A7, Pittock SJ7, Hassan R2, Schlom J6, Gulley JL6,8. 1Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA andrew.mammen@nih.gov. 2Thoracic and Gastrointestinal Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. 3Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA. 4Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 5Division of Rheumatology, Department of Medicine, The Johns Hopkins Hospital, Baltimore, Maryland, USA. 6Laboratory of Tumor Immunology and Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. 7Neuroimmunology Laboratory, Mayo Clinic, Rochester, Minnesota, USA. 8Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA. #Contributed equally KEYWORDS: B cells; autoantibodies; autoimmune diseases; autoimmunity; polymyositis PMID: 30185415 DOI:10.1136/annrheumdis-2018-213777

120. Front Neurosci. 2018 Aug 22;12:570. doi: 10.3389/fnins.2018.00570. eCollection 2018. Corrigendum: Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis. Lu Y1, Da YW1, Zhang YB2, Li XG3,4, Wang M1, Di L1, Pang M5, Lei L1. 1Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China. 2Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing, China. 3Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China. 4School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, Australia. 5Department of Neurology, Zhengzhou University People's Hospital, Zhengzhou, China. [This corrects the article DOI: 10.3389/fnins.2018.00329.]. KEYWORDS: CFTR; hereditary inclusion body myopathy; mutation; next-generation sequencing; whole-exome sequencing Erratum for Identification of the CFTR c.1666A>G Mutation in Hereditary Inclusion Body Myopathy Using Next-Generation Sequencing Analysis. [Front Neurosci. 2018] PMID: 30174583 PMCID: PMC6113927 DOI: 10.3389/fnins.2018.00570 Free PMC Article

Myopathies métaboliques – Metabolic myopathies 121. Am J Med Genet A. 2018 Sep 8. doi: 10.1002/ajmg.a.40430. [Epub ahead of print]

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 36/50

Majer F1, Piherova L1, Reboun M1, Stara V2, Pelak O3, Norambuena P4, Stranecky V1, Krebsova A5, Vlaskova H1, Dvorakova L1, Kmoch S1, Kalina T3, Kubanek M5, Sikora J1. 1Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. 2Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. 3Department of Paediatric Haematology and Oncology, Childhood Leukaemia Investigation Prague, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. 4Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. 5Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. KEYWORDS: Danon disease; X-chromosome; exon-copy number variations; female heterozygotes; flow cytometry; lysosomal-associated membrane protein 2 PMID: 30194816 DOI: 10.1002/ajmg.a.40430

122. J Inherit Metab Dis. 2018 Sep 7. doi: 10.1007/s10545-018-0245-5. [Epub ahead of print] The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). Hesse J1,2, Braun C1,2, Behringer S1,2, Matysiak U3, Spiekerkoetter U1, Tucci S4,5. 1Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, Medical Centre- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. 2Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Mathildenstrasse 1, D-79106, Freiburg, Germany. 3Pediatric Genetics, Center for Pediatrics and Adolescent Medicine, Medical Centre- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. 4Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, Medical Centre- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. sara.tucci@uniklinik-freiburg.de. 5Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Mathildenstrasse 1, D-79106, Freiburg, Germany. sara.tucci@uniklinik-freiburg.de. PMID: 30194637 DOI:10.1007/s10545-018-0245-5

123. J Med Case Rep. 2018 Aug 28;12(1):249. doi: 10.1186/s13256-018-1702-3. Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. Avila-Smirnow D1,2,3, Boutron A4, Beytía-Reyes MLÁ5,6,7, Contreras-Olea O8, Caicedo-Feijoo A9, Gejman-Enríquez R10, Escobar-Henríquez R7, Förster-Mujica J5,6,7. 1Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sotero del Río, Avenida Concha y Toro 3459, Puente Alto, Santiago, Chile. avidaniela@gmail.com. 2Unidad Docente Asistencial-Sótero del Río, Pontificia Universidad Católica de Chile, Santiago, Chile. avidaniela@gmail.com. 3Unidad de Neurología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. avidaniela@gmail.com. 4Biochemistry Department, CHU Bicetre, Hôpitaux Paris-Sud, Assistance Publique - Hôpitaux de Paris, Paris, France. 5Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sotero del Río, Avenida Concha y Toro 3459, Puente Alto, Santiago, Chile. 6Unidad Docente Asistencial-Sótero del Río, Pontificia Universidad Católica de Chile, Santiago, Chile. 7Unidad de Neurología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. 8Departamento de Radiología, Pontificia Universidad Católica de Chile, Santiago, Chile. 9Servicio de Imagenología, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile. 10Departamento de Anatomía Patológica, Pontificia Universidad Católica de Chile, Santiago, Chile. KEYWORDS: Carnitine palmitoyltransferase type II deficiency; Myoglobinuria; Native South American; Rhabdomyolysis; Whole-body magnetic resonance imaging PMID: 30149802 PMCID: PMC6112146 DOI: 10.1186/s13256-018-1702-3 Free PMC Article

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 37/50

Myopathies mitochondriales – Mitochondrial myopathies 124. J Pathol. 2018 Aug 26. doi: 10.1002/path.5156. [Epub ahead of print]

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations. Su T1, Grady JP1, Afshar S2, McDonald SA3, Taylor RW1, Turnbull DM1,4, Greaves LC1,4. 1Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. 2Human Nutrition Research Centre, Institute of Cellular Medicine, Newcastle University, Campus for Ageing and Vitality, Newcastle on Tyne, UK. 3Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, London, UK. 4LLHW Centre for Ageing and Vitality, Newcastle University Institute for Ageing, The Medical School, Newcastle upon Tyne, UK. KEYWORDS: MELAS, ; MERRF, ; Mitochondrial DNA mutation, ; alimentary canal; gastrointestinal epithelium, ; intestinal stem cell, ; m.3243A>G, ; mitochondrial disease, ; segregation, ; selection, PMID: 30146801 DOI:10.1002/path.5156

125. Can J Cardiol. 2018 Sep;34(9):1234.e7. doi: 10.1016/j.cjca.2018.05.027. Epub 2018 Jun 8. The Genetic Cause of Kearns-Sayre Syndrome Determines Counselling and Outcome of These Patients. Finsterer J. PMID: 30170685 DOI:10.1016/j.cjca.2018.05.027

Myopathies myofibrillaires – Myofibrillar myopathies 126. Genes Genomics. 2018 Aug 25. doi: 10.1007/s13258-018-0721-1. [Epub ahead of print]

BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. Kim SJ1, Nam SH2, Kanwal S3, Nam DE4, Yoo DH4, Chae JH5, Suh YL6, Chung KW7, Choi BO8,9. 1Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. 2Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. 3Department of Biosciences, COMSATS Institute of Information Technology, Sahiwal, Pakistan. 4Department of Biological Sciences, Kongju National University, 56 Gonjudaehak-ro, Gongju, 32588, South Korea. 5Department of Pediatrics, Seoul National University College of Medicine, 101 Daehak-ro Jongno-gu, Seoul, 03080, South Korea. 6Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. 7Department of Biological Sciences, Kongju National University, 56 Gonjudaehak-ro, Gongju, 32588, South Korea. kwchung@kongju.ac.kr. 8Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. bochoi77@hanmail.net. 9Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. bochoi77@hanmail.net. KEYWORDS: BAG3; Charcot–Marie–Tooth disease; Myofibrillar myopathy; Rigid spine; WES PMID: 30145633 DOI:10.1007/s13258-018-0721-1

Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome 127. Neurology. 2018 Sep 4;91(10):e995-e998. doi: 10.1212/WNL.0000000000006126.

Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. Irumudomon O1, Ghosh PS2. 1From the Department of Neurology (O.I.), Lahey Clinic, Burlington; and Department of Neurology (O.I., P.S.G.), Boston Children's Hospital, MA. 2From the Department of Neurology (O.I.), Lahey Clinic, Burlington; and Department of Neurology (O.I., P.S.G.), Boston Children's Hospital, MA. partha.ghosh@childrens.harvard.edu. PMID: 30177536 DOI:10.1212/WNL.0000000000006126

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 38/50

128. Neuromuscul Disord. 2018 Jul 6. pii: S0960-8966(17)31468-2. doi: 10.1016/j.nmd.2018.06.020. [Epub ahead of print]

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20. Pardal-Fernández JM1, Carrascosa-Romero MC2, Álvarez S3, Medina-Monzón MC2, Caamaño MB2, de Cabo C4. 1Department of Clinical Neurophysiology, Albacete General Hospital, Spain. Electronic address: josempardalfdez@gmail.com. 2Department of Pediatrics, Albacete General Hospital, Spain. 3Department of Genomics and Medicine, NIMGenetics, Madrid, Spain. 4Research Department, Neuropsychopharmacology Unit, Albacete General Hospital, Spain. KEYWORDS: Congenital myasthenic syndrome; Electrophysiology; MIM#617143; Presynaptic choline transporter; Repetitive stimulation; SLC5A7 gene PMID: 30172469 DOI:10.1016/j.nmd.2018.06.020

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (several diseases)

129. Methods Mol Biol. 2018;1828:91-124. doi: 10.1007/978-1-4939-8651-4_6. Antisense Oligonucleotide Targeting of 3'-UTR of mRNA for Expression Knockdown. Golshirazi G1, Ciszewski L1, Lu-Nguyen N1, Popplewell L2. 1Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey, UK. 2Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway, University of London, Egham, Surrey, UK. linda.popplewell@rhul.ac.uk. KEYWORDS: Antisense oligonucleotides; DUX4; Facioscapulohumeral dystrophy; Myostatin; Polyadenylation signal PMID: 30171537 DOI: 10.1007/978-1-4939-8651-4_6

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (several diseases)

130. Neuromuscul Disord. 2018 Jul 31. pii: S0960-8966(18)30047-6. doi: 10.1016/j.nmd.2018.07.010. [Epub ahead of print]

Characteristic findings of skeletal muscle MRI in caveolinopathies. Ishiguro K1, Nakayama T2, Yoshioka M3, Murakami T1, Kajino S1, Shichiji M1, Sato T1, Hino-Fukuyo N4, Kuru S5, Osawa M1, Nagata S1, Okubo M6, Murakami N7, Hayashi YK8, Nishino I6, Ishigaki K9. 1Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. 2Department of Neurology, Japan Organization of Occupational Health and Safety, Yokohama Rosai Hospital, Yokohama, Kanagawa, Japan. 3Department of Neurology, National Hospital Organization Sendai Nishitaga Hospital, Sendai, Miyagi, Japan. 4Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan. 5Department of Neurology, National Hospital Organization Suzuka National Hospital, Suzuka, Mie, Japan. 6Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan. 7Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Saitama, Japan. 8Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan; Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan. 9Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. Electronic address: ishigaki.keiko@twmu.ac.jp. KEYWORDS: Caveolin-3; Caveolinopathy; Limb-girdle muscular dystrophy 1C; Polymerase I and transcript release factor; Rippling muscle disease; Skeletal muscle magnetic resonance imaging PMID: 30174172 DOI: 10.1016/j.nmd.2018.07.010

131. Acta Derm Venereol. 2018 Sep 3. doi: 10.2340/00015555-3026. [Epub ahead of print] Acquired Partial Lipodystrophy Associated with Anti-Mi-2 Antibody-positive Adult-onset Dermatomyositis. Shiraishi K1, Tohyama M, Sayama K. 1Department of Dermatology , Ehime University Graduate School of Medicine, 791-0295 Toon, Japan. kshira@m.ehime-u.ac.jp. PMID: 30182133 DOI:10.2340/00015555-3026 Free full text

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 39/50

132. Methods Mol Biol. 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5. Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. Maruyama R1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. 2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. yokotama@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. yokotama@ualberta.ca. KEYWORDS: 2′-O-methyl RNA; Antisense oligonucleotides (AONs); Duchenne/Becker muscular dystrophy (DMD/BMD); Eteplirsen (Exondys 51); Exon skipping/inclusion; Golodirsen; NS-065/NCNP-01; Nusinersen (Spinraza); Phosphorodiamidate morpholino oligomers (PMOs); Splice switching oligonucleotides (SSOs) PMID: 30171536 DOI: 10.1007/978-1-4939-8651-4_5

133. Methods Mol Biol. 2018;1828:31-55. doi: 10.1007/978-1-4939-8651-4_2. An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. Rodrigues M1, Yokota T2,3. 1Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. 2Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Endowed Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: CRISPR Cas9/Cpf1 genome editing; Duchenne/Becker muscular dystrophy (DMD/BMD); Dystrophic epidermolysis bullosa (DEB); Eteplirsen (Exondys 51); Exon skipping; Fibrodysplasia ossificans progressiva (FOP); Laminin-alpha 2; Myotonic dystrophy; Nusinersen (Spinraza); Usher syndrome PMID: 30171533 DOI: 10.1007/978-1-4939-8651-4_2

134. Methods Mol Biol. 2018;1828:3-30. doi: 10.1007/978-1-4939-8651-4_1. Invention and Early History of Exon Skipping and Splice Modulation. Lim KRQ1, Yokota T2,3. 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. 2Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense history; Antisense oligonucleotides; Antisense therapy; Cryptic splice correction; Exon inclusion; Exon skipping/inclusion; Golodirsen (SRP-4053); Isoform switching; NS-065/NCNP-01; Pre-mRNA splicing PMID: 30171532 DOI: 10.1007/978-1-4939-8651-4_1

135. Biomaterials. 2018 Aug 30. pii: S0142-9612(18)30619-7. doi: 10.1016/j.biomaterials.2018.08.059. [Epub ahead of print]

Microfluidic devices for disease modeling in muscle tissue. Smoak MM1, Pearce HA1, Mikos AG2. 1Department of Bioengineering, Rice University, Houston, TX 77030, USA. 2Department of Bioengineering, Rice University, Houston, TX 77030, USA. Electronic address: mikos@rice.edu. KEYWORDS: Ex vivo system; Microfluidics; Muscle; Muscle-on-a-chip; Myopathy PMID: 30193908 DOI:10.1016/j.biomaterials.2018.08.059

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 40/50

Divers – Miscellaneous 136. Gait Posture. 2018 Aug 20;66:38-44. doi: 10.1016/j.gaitpost.2018.08.016. [Epub ahead of print]

Compensations in lower limb joint work during walking in response to unilateral calf muscle weakness. Waterval NFJ1, Brehm MA2, Ploeger HE2, Nollet F2, Harlaar J3. 1Amsterdam UMC, University of Amsterdam, Department of Rehabilitation, Amsterdam Movement Sciences, Meibergdreef 9, Amsterdam, The Netherlands. Electronic address: n.f.waterval@amc.uva.nl. 2Amsterdam UMC, University of Amsterdam, Department of Rehabilitation, Amsterdam Movement Sciences, Meibergdreef 9, Amsterdam, The Netherlands. 3Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Rehabilitation Medicine, Amsterdam Movement Sciences, de Boelelaan 1117, Amsterdam, The Netherlands; Department of Biomechanical Engineering, Delft University of Technology, The Netherlands. KEYWORDS: Ankle push-off; Gait compensations; Muscle weakness; Neuromuscular disorders; Walking energy cost PMID: 30145473 DOI:10.1016/j.gaitpost.2018.08.016

137. J Neurol Sci. 2018 Oct 15;393:100-104. doi: 10.1016/j.jns.2018.08.018. Epub 2018 Aug 18. Establishment of primary myoblast cell cultures from cryopreserved skeletal muscle biopsies to serve as a tool in related research & development studies. Balci-Hayta B1, Bekircan-Kurt CE2, Aksu E1, Dayangac-Erden D1, Tan E3, Erdem-Ozdamar S2. 1Department of Medical Biology, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey. 2Department of Neurology and Neuromuscular Diseases Research Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey. 3Department of Neurology and Neuromuscular Diseases Research Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey. Electronic address: ersintan@superonline.com. KEYWORDS: Cryopreserved tissue; Neuromuscular disorder; Primary myoblast cell culture; Skeletal muscle biopsy PMID: 30153568 DOI: 10.1016/j.jns.2018.08.018

138. Case Rep Pathol. 2018 Aug 12;2018:5130143. doi: 10.1155/2018/5130143. eCollection 2018. Myopathy in the York Platelet Syndrome: An Underrecognized Complication. Roman J1, Palmer MI1, Palmer CA1, Johnson NE1,2, Butterfield RJ2,3. 1Department of Pathology, University of Utah, Salt Lake City, UT, USA. 2Department of Neurology, University of Utah, Salt Lake City, UT, USA. 3Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. PMID: 30159190 PMCID:PMC6109526 DOI:10.1155/2018/5130143 Free PMC Article

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 41/50

Certaines références présentées par maladies sont triées ci-dessous par spécialités. Some of citations presented by diseases are sorted below by specialties.

Cardiologie – Cardiology

JAMA Cardiol. 2018 Aug 29. doi: 10.1001/jamacardio.2018.2695. [Epub ahead of print] Myocarditis in Duchenne Muscular Dystrophy After Changing Steroids. Abutaleb ARA1, McNally EM2,3,4, Khan SS3, Anderson AS3, Carr JC5, Wilcox JE3. 1Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 2Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 3Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois. 4Associate Editor. 5Department of Radiology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, Chicago, Illinois. PMID: 30167630 DOI:10.1001/jamacardio.2018.2695

J Cardiovasc Transl Res. 2018 Aug 28. doi: 10.1007/s12265-018-9826-9. [Epub ahead of print] Exosome-Derived Dystrophin from Allograft Myogenic Progenitors Improves Cardiac Function in Duchenne Muscular Dystrophic Mice. Su X1, Jin Y1, Shen Y2, Ju C3, Cai J2, Liu Y2, Kim IM2, Wang Y1, Yu H4, Weintraub NL2, Jiang M5, Tang Y6. 1Department of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, 160, Pujian Road, Shanghai, 200127, China. 2Vascular Biology Center, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. 3Department of Cardiology, Zhongda Hospital, Medical School of Southeast University, Nanjing, China. 4Department of Cardiology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310009, China. 5Department of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiaotong University, 160, Pujian Road, Shanghai, 200127, China. jiangmeng0919@163.com. 6Vascular Biology Center, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. yaotang@augusta.edu. KEYWORDS: Cardiomyopathy; Dystrophin; Exosome; Myogenic progenitor cells PMID: 30155598 DOI: 10.1007/s12265-018-9826-9

Methods Mol Biol. 2018;1828:263-273. doi: 10.1007/978-1-4939-8651-4_16. Systemic Injection of Peptide-PMOs into Humanized DMD Mice and Evaluation by RT-PCR and ELISA. Melo D1, Maruyama R1, Yokota T2,3. 1Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. 2Faculty of Medicine and Dentistry, Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. toshifum@ualberta.ca. 3The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Antisense oligonucleotides (AOs); Antisense therapy; Duchenne/Becker muscular dystrophy (DMD/BMD); Enzyme-linked immunosorbent assay (ELISA); Eteplirsen; Exon skipping; Golodirsen; NS-065/NCNP-01; Peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO); Phosphorodiamidate morpholino oligomer (PMO) PMID: 30171547 DOI:10.1007/978-1-4939-8651-4_16

Methods Mol Biol. 2018;1828:365-379. doi: 10.1007/978-1-4939-8651-4_23. In Vivo Evaluation of Multiple Exon Skipping with Peptide-PMOs in Cardiac and Skeletal Muscles in Dystrophic Dogs. Maruyama R1, Aoki Y2, Takeda S3, Yokota T4,5. 1Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. 2Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 42/50

3Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan. takeda@ncnp.go.jp. 4Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB, Canada. toshifum@ualberta.ca. 5The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Endowed Research Chair, Edmonton, AB, Canada. toshifum@ualberta.ca. KEYWORDS: Canine X-linked muscular dystrophy (CXMD); Duchenne/Becker muscular dystrophies (DMD/BMD); Dystrophin; Eteplirsen (Exondys 51); Golden Retriever Muscular Dystrophy (GRMD); Golodirsen; Multiple exon skipping; NS-065/NCNP-01; Peptide-conjugated PMOs (PPMOs); Phosphorodiamidate morpholino oligomers (Morpholinos or PMOs) PMID: 30171554 DOI: 10.1007/978-1-4939-8651-4_23

Methods Mol Biol. 2018;1828:231-247. doi: 10.1007/978-1-4939-8651-4_14. In Vivo Evaluation of Dystrophin Exon Skipping in mdx Mice. Wu B1, Wang M2, Shah S2, Lu QL3. 1McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC, USA. bo.wu@carolinashealthcare.org. 2McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC, USA. 3McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC, USA. qi.lu@carolinashealthcare.org. KEYWORDS: Dystrophin; Echocardiogram; Exon skipping; Grip strength; Hemodynamics; Immunochemistry; RT-PCR; Treadmill; Western blotting PMID: 30171545 DOI: 10.1007/978-1-4939-8651-4_14

Tokai J Exp Clin Med. 2018 Sep 20;43(3):103-105. A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. Homma K, Nagata E1, Hanano H, Uesugi T, Ohnuki Y, Matsuda S, Kazahari S, Takizawa S. 1Department of Neurology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan. enagata@is.icc.u-tokai.ac.jp. PMID: 30191544 Free full text

Mol Genet Metab Rep. 2018 Aug 28;17:1. doi: 10.1016/j.ymgmr.2018.08.003. eCollection 2018 Dec. Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Postfach 20, 1180 Vienna, Austria. KEYWORDS: Arteriopathy; Cardiomyopathy; Intracerebral bleeding; Late onset Pompe disease; Metabolic myopathy; Renal infarction PMID: 30175046 PMCID:PMC6116777 DOI:10.1016/j.ymgmr.2018.08.003 Free PMC Article

J Neurol Sci. 2018 Oct 15;393:142-144. doi: 10.1016/j.jns.2018.08.015. Epub 2018 Aug 17. Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation. Tadokoro K1, Ohta Y1, Sasaki R1, Takahashi Y1, Sato K1, Shang J1, Takemoto M1, Hishikawa N1, Yamashita T1, Nakamura K2, Nishino I3, Abe K4. 1Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. 2Department of Cardiovascular Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. 3Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 43/50

4Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. Electronic address: p86m6fma@okayama-u.ac.jp. KEYWORDS: ACTA1; Congenital fiber-type disproportion; Dilated cardiomyopathy; p.G48A PMID:30195123 DOI:10.1016/j.jns.2018.08.015

Acta Neuropathol Commun. 2018 Aug 29;6(1):83. doi: 10.1186/s40478-018-0589-y. A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Wang H1,2, Schänzer A3, Kampschulte B4, Daimagüler HS1,2, Logeswaran T5, Schlierbach H3, Petzinger J4, Ehrhardt H4, Hahn A6, Cirak S7,8. 1Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. 2Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. 3Institute of Neuropathology, Justus Liebig University Giessen, Arndtsr.16, 35392, Giessen, Germany. 4Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany. 5Department of Pediatric Cardiology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany. 6Department of Child Neurology, Center of Child and Adolescent Medicine, Justus Liebig University Giessen, 35392, Giessen, Germany. 7Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany. sebahattin.cirak@uk-koeln.de. 8Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. sebahattin.cirak@uk-koeln.de. PMID: 30157964 PMCID:PMC6114030 DOI:10.1186/s40478-018-0589-y Free PMC Article

Electromyographie – Electromyography Multidiscip Respir Med. 2018 Sep 1;13:32. doi: 10.1186/s40248-018-0145-4. eCollection 2018.

Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report. Menzella F1, Codeluppi L2, Lusuardi M3, Galeone C1, Valzania F2, Facciolongo N1. 1Department of Medical Specialties, Pneumology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia- IRCCS, Via Amendola 2, 42122 Reggio Emilia, Italy. 2Neuromotor & Rehabilitation Department, Neurology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia-IRCCS, Reggio Emilia, Italy. 3Unit of Respiratory Rehabilitation, Azienda USL di Reggio Emilia, S. Sebastiano Hospital, Correggio, Italy. KEYWORDS: Enzyme; Glycogen; Muscle biopsy; Respiratory failure; Ventilation PMID: 30186604 PMCID:PMC6119261 DOI:10.1186/s40248-018-0145-4 Free PMC Article

Gastroentérologie / Nutrition – Gastroenterology / Nutrition Pharmacoecon Open. 2018 Sep 4. doi: 10.1007/s41669-018-0093-0. [Epub ahead of print]

High Healthcare Resource Use in Hospitalized Patients with a Diagnosis of Spinal Muscular Atrophy Type 1 (SMA1): Retrospective Analysis of the Kids' Inpatient Database (KID). Cardenas J1, Menier M1, Heitzer MD1, Sproule DM2. 1Department of Clinical Development, AveXis, Inc, 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA. 2Department of Clinical Development, AveXis, Inc, 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA. Dsproule216@avexis.com. PMID: 30182345 DOI: 10.1007/s41669-018-0093-0 Free full text

APMIS. 2018 Aug;126(8):693-699. doi: 10.1111/apm.12864. Evaluation of the gastrointestinal tract in mdx mice: an experimental model of Duchenne muscular dystrophy.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 44/50

Feder D1, Ierardi M1, Covre AL1, Petri G1, Carvalho AAS2, Fonseca FLA3, Bertassoli BM1. 1Pharmacology Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil. 2Neurosciences Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil. 3Clinical Analysis Department, Faculdade de Medicina do ABC, Santo André, SP, Brazil. KEYWORDS: Duchenne muscular dystrophy ; gut transit; intestinal motility; mdx mice; muscular dystrophy PMID: 30168625 DOI: 10.1111/apm.12864 [Indexed for MEDLINE]

Am J Case Rep. 2018 Aug 28;19:1025-1029. doi: 10.12659/AJCR.910283. Aortoesophageal Fistula Causing Massive Gastrointestinal Bleeding and Death in a Patient with Dermatomyositis: A Case Report. Ju TR1, Lee CC2, Lin YC1. 1Department of Pulmonary and Critical Care Medicine, China Medical University Hospital, Taichung, Taiwan. 2Department of Critical Care Medicine, Oregon Health Science University Hospital, Portland, OR, USA. PMID: 30150607 PMCID:PMC6122059 DOI:10.12659/AJCR.910283 Free PMC Article

J Pathol. 2018 Aug 26. doi: 10.1002/path.5156. [Epub ahead of print] Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations. Su T1, Grady JP1, Afshar S2, McDonald SA3, Taylor RW1, Turnbull DM1,4, Greaves LC1,4. 1Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK. 2Human Nutrition Research Centre, Institute of Cellular Medicine, Newcastle University, Campus for Ageing and Vitality, Newcastle on Tyne, UK. 3Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, London, UK. 4LLHW Centre for Ageing and Vitality, Newcastle University Institute for Ageing, The Medical School, Newcastle upon Tyne, UK. KEYWORDS: MELAS, ; MERRF, ; Mitochondrial DNA mutation, ; alimentary canal; gastrointestinal epithelium, ; intestinal stem cell, ; m.3243A>G, ; mitochondrial disease, ; segregation, ; selection, PMID: 30146801 DOI:10.1002/path.5156

Imagerie médicale – Medical Imaging Neuromuscul Disord. 2018 Jun 30. pii: S0960-8966(18)30151-2. doi: 10.1016/j.nmd.2018.06.008. [Epub ahead of print]

Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients. Jeong HN1, Yi JS2, Lee YH3, Lee JH1, Shin HY4, Choi YC1, Kim SM1. 1Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea. 2Department of Radiology, Research Institute of Radiological Science, YUHS-KRIBB Medical Convergence Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea; Department of Radiology, Inje University College of Medicine, Haeundae Paik Hospital, Busan, Republic of Korea. 3Department of Radiology, Research Institute of Radiological Science, YUHS-KRIBB Medical Convergence Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea. 4Department of Neurology, Yonsei University College of Medicine, Seoul, Republic of Korea. Electronic address: hayshin@yuhs.ac. KEYWORDS: Chronic progressive myopathy; Fat quantification; Hyperkalemic periodic paralysis; Muscle MRI PMID: 30172468 DOI: 10.1016/j.nmd.2018.06.008

J Neurol. 2018 Sep 6. doi: 10.1007/s00415-018-9037-y. [Epub ahead of print] Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers. Mul K1, Horlings CGC2, Vincenten SCC2, Voermans NC2, van Engelen BGM2, van Alfen N2.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 45/50

1Department of Neurology and Clinical Neurophysiology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. karlien.mul@radboudumc.nl. 2Department of Neurology and Clinical Neurophysiology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. KEYWORDS: Biomarkers; Facioscapulohumeral muscular dystrophy; MRI; Muscle disorders; Ultrasound PMID: 30191320 DOI:10.1007/s00415-018-9037-y

Front Neurol. 2018 Aug 21;9:646. doi: 10.3389/fneur.2018.00646. eCollection 2018. Current Progress in CNS Imaging of Myotonic Dystrophy. Minnerop M1,2, Gliem C3, Kornblum C3,4. 1Institute of Neuroscience and Medicine (INM-1), Research Center Juelich, Juelich, Germany. 2Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Center for Movement Disorders and Neuromodulation, Heinrich-Heine University, Düsseldorf, Germany. 3Department of Neurology, University Hospital of Bonn, Bonn, Germany. 4Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany. KEYWORDS: DTI; MRI; PET; VBM; brain; fMRI; myotonic dystrophy; neuroimaging PMID: 30186217 PMCID:PMC6110944 DOI:10.3389/fneur.2018.00646 Free PMC Article

Eur J Neurol. 2018 Oct;25(10):e111. doi: 10.1111/ene.13730. Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment? Chien YH1,2, Lee NC1,2, Hwu WL1,2, Fang JY1. 1Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan. 2Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan. Dear Sir KEYWORDS: Pompe disease; acid α-glucosidase; enzyme replacement therapy; magnetic resonance imaging; pre-symptomatic hyperCKaemia PMID: 30192061 DOI: 10.1111/ene.13730

Clin Radiol. 2018 Aug 29. pii: S0009-9260(18)30392-1. doi: 10.1016/j.crad.2018.07.106. [Epub ahead of print]

T2 mapping in dermatomyositis/polymyositis and correlation with clinical parameters. Ran J1, Ji S2, Morelli JN3, Wu G1, Li X4. 1Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. 2Department of Neurology, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. 3Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 4Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. Electronic address: lilyboston2002@sina.com. PMID: 30172348 DOI:10.1016/j.crad.2018.07.106

J Med Case Rep. 2018 Aug 28;12(1):249. doi: 10.1186/s13256-018-1702-3. Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. Avila-Smirnow D1,2,3, Boutron A4, Beytía-Reyes MLÁ5,6,7, Contreras-Olea O8, Caicedo-Feijoo A9, Gejman-Enríquez R10, Escobar-Henríquez R7, Förster-Mujica J5,6,7. 1Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sotero del Río, Avenida Concha y Toro 3459, Puente Alto, Santiago, Chile. avidaniela@gmail.com. 2Unidad Docente Asistencial-Sótero del Río, Pontificia Universidad Católica de Chile, Santiago, Chile. avidaniela@gmail.com.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 46/50

3Unidad de Neurología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. avidaniela@gmail.com. 4Biochemistry Department, CHU Bicetre, Hôpitaux Paris-Sud, Assistance Publique - Hôpitaux de Paris, Paris, France. 5Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sotero del Río, Avenida Concha y Toro 3459, Puente Alto, Santiago, Chile. 6Unidad Docente Asistencial-Sótero del Río, Pontificia Universidad Católica de Chile, Santiago, Chile. 7Unidad de Neurología, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile. 8Departamento de Radiología, Pontificia Universidad Católica de Chile, Santiago, Chile. 9Servicio de Imagenología, Complejo Asistencial Dr. Sótero del Río, Santiago, Chile. 10Departamento de Anatomía Patológica, Pontificia Universidad Católica de Chile, Santiago, Chile. KEYWORDS: Carnitine palmitoyltransferase type II deficiency; Myoglobinuria; Native South American; Rhabdomyolysis; Whole-body magnetic resonance imaging PMID: 30149802 PMCID: PMC6112146 DOI: 10.1186/s13256-018-1702-3 Free PMC Article

Neuromuscul Disord. 2018 Jul 31. pii: S0960-8966(18)30047-6. doi: 10.1016/j.nmd.2018.07.010. [Epub ahead of print]

Characteristic findings of skeletal muscle MRI in caveolinopathies. Ishiguro K1, Nakayama T2, Yoshioka M3, Murakami T1, Kajino S1, Shichiji M1, Sato T1, Hino-Fukuyo N4, Kuru S5, Osawa M1, Nagata S1, Okubo M6, Murakami N7, Hayashi YK8, Nishino I6, Ishigaki K9. 1Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. 2Department of Neurology, Japan Organization of Occupational Health and Safety, Yokohama Rosai Hospital, Yokohama, Kanagawa, Japan. 3Department of Neurology, National Hospital Organization Sendai Nishitaga Hospital, Sendai, Miyagi, Japan. 4Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan. 5Department of Neurology, National Hospital Organization Suzuka National Hospital, Suzuka, Mie, Japan. 6Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan. 7Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Saitama, Japan. 8Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan; Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan. 9Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. Electronic address: ishigaki.keiko@twmu.ac.jp. KEYWORDS: Caveolin-3; Caveolinopathy; Limb-girdle muscular dystrophy 1C; Polymerase I and transcript release factor; Rippling muscle disease; Skeletal muscle magnetic resonance imaging PMID: 30174172 DOI: 10.1016/j.nmd.2018.07.010

Médecine physique et de réadaptation – Physical Medicine & Rehabilitation Pediatr Exerc Sci. 2018 Sep 5:1-5. doi: 10.1123/pes.2018-0115. [Epub ahead of print]

Lower Limb Flexibility in Children With Duchenne Muscular Dystrophy: Effects on Functional Performance. Akkurt L1, Alemdaroğlu Gürbüz İ1, Karaduman A1, Tunca Yilmaz Ö1. 1 Hacettepe University. KEYWORDS: elasticity; function; lower extremity; muscular dystrophy PMID: 30180785 DOI: 10.1123/pes.2018-0115

Clin Exp Rheumatol. 2018 Jul 19. [Epub ahead of print] Feasibility, safety and efficacy of exercise training in immune-mediated necrotising myopathies: a quasi-experimental prospective study. de Souza JM1, de Oliveira DS1, Perin LA1, Misse RG1, Dos Santos AM1, Gualano B2, de Sá Pinto AL1, Roschel H2, Lima FR1, Shinjo SK3. 1Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Brazil. 2Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo; and Applied Physiology & Nutrition Research Group, Universidade de Sao Paulo, Brazil.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 47/50

3Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Brazil. samuel.shinjo@gmail.com. PMID:30148431

Nephrology – Nephrology Mol Genet Metab Rep. 2018 Aug 28;17:1. doi: 10.1016/j.ymgmr.2018.08.003. eCollection 2018 Dec.

Dilative arteriopathy in Pompe disease may not only affect the cerebral arteries. Finsterer J1. 1Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Postfach 20, 1180 Vienna, Austria. KEYWORDS: Arteriopathy; Cardiomyopathy; Intracerebral bleeding; Late onset Pompe disease; Metabolic myopathy; Renal infarction PMID: 30175046 PMCID:PMC6116777 DOI:10.1016/j.ymgmr.2018.08.003 Free PMC Article

Ophtalmology – Ophtalmology JAMA Ophthalmol. 2018 Sep 6. doi: 10.1001/jamaophthalmol.2018.4053. [Epub ahead of print]

Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. Rosa N1, De Bernardo M1, Politano L2. 1Department of Medicine Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno, Salerno, Italy. 2Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy. PMID: 30193301 DOI:10.1001/jamaophthalmol.2018.4053

JAMA Ophthalmol. 2018 Sep 6. doi: 10.1001/jamaophthalmol.2018.4056. [Epub ahead of print] Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. Silvestri G1,2, Rossi S1, Perna A1. 1Department of Geriatrics, Orthopaedic and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. 2Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy. PMID: 30193333 DOI:10.1001/jamaophthalmol.2018.4056

JAMA Ophthalmol. 2018 Sep 6. doi: 10.1001/jamaophthalmol.2018.4184. [Epub ahead of print] Clarification on Uveal Melanoma Associated With Myotonic Dystrophy-Reply. Dalvin LA1,2, Pulido JS2,3, Shields CL1. 1Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. 2Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota. 3Department Molecular Medicine, Mayo Clinic, Rochester, Minnesota. PMID: 30193376 DOI:10.1001/jamaophthalmol.2018.4184

Exp Neurol. 2018 Aug 28;310:1-13. doi: 10.1016/j.expneurol.2018.08.009. [Epub ahead of print] Genetic screening of the genes interacting with Drosophila FIG4 identified a novel link between CMT-causing gene and long noncoding RNAs. Muraoka Y1, Nakamura A1, Tanaka R1, Suda K1, Azuma Y2, Kushimura Y2, Lo Piccolo L3, Yoshida H1, Mizuta I2, Tokuda T4, Mizuno T2, Nakagawa M5, Yamaguchi M6. 1Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan; The Center for Advanced Insect Research, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan. 2Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan. 3Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 48/50

4Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan; Department of Molecular Pathobiology of Brain Diseases, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan. 5Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan; North Medical Center, Kyoto Prefectural University of Medicine, 481 otokoyama, yosano-cho, yosa-gun, Kyoto 629-2291, Japan. 6Department of Applied Biology, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan; The Center for Advanced Insect Research, Kyoto Institute of Technology, Matsugasaki, Sakyo-ku, Kyoto 606-8585, Japan. Electronic address: myamaguc@kit.ac.jp. KEYWORDS: ALS; CMT; Drosophila; FIG4; FUS; Long non-coding RNAs PMID: 30165075 DOI: 10.1016/j.expneurol.2018.08.009

J Community Hosp Intern Med Perspect. 2018 Jun 22;8(4):230-232. doi: 10.1080/20009666.2018.1487245. eCollection 2018.

A diagnosis of late-onset Myasthenia gravis unmasked by topical antibiotics. Hussain N1, Hussain F2, Haque D3, Chittivelu S4. 1Department of Internal Medicine, University of Illinois College of Medicine at Peoria, Peoria, USA. 2Internal Medicine, Advanced Cancer Care Center Illinois, Aurora, USA. 3Windsor University School of Medicine, Cayon, St Kitts and Nevis. 4Department of Critical Care/Pulmonary Medicine, University of Illinois College of Medicine at Peoria, Peoria, USA. KEYWORDS: Myasthenia gravis; aminoglycosides; antibiotics; eye drops; neuromuscular; tobramycin PMID: 30181833 PMCID: PMC6116301 DOI:10.1080/20009666.2018.1487245 Free PMC Article

Pneumologie – Pulmonary Medicine Neurology. 2018 Aug 29. pii: 10.1212/WNL.0000000000006281. doi: 10.1212/WNL.0000000000006281. [Epub ahead of print]

Nusinersen in spinal muscular atrophy type 1 patients older than 7 months: A cohort study. Aragon-Gawinska K1, Seferian AM1, Daron A1, Gargaun E1, Vuillerot C1, Cances C1, Ropars J1, Chouchane M1, Cuppen I1, Hughes I1, Illingworth M1, Marini-Bettolo C1, Rambaud J1, Taytard J1, Annoussamy M1, Scoto M1, Gidaro T1, Servais L2. 1From the Institute I-motion (K.A.-G., A.M.S., E.G., M.A., T.G., L.S.), Pediatric Intensive Care Unit (J. Rambaud), and Department of Pediatric Pneumology (J.T.), Armand Trousseau Hospital, Paris, France; Neuromuscular Reference Centre (A.D., L.S.), Citadelle Hospital, Liege, Belgium; Department of Pediatric Physical Medicine and Rehabilitation (C.V.), University Hospital of Lyon; Department of Child Neurology (C.C.), University Hospital of Toulouse; Department of Child Neurology (J. Ropars), University Hospital of Brest; Department of Pediatrics (M.C.), University Hospital of Dijon, France; Department of Neurology & Neurosurgery (I.C.), Brain Center Rudolf Magnus, UMC Utrecht, the Netherlands; Royal Manchester Children's Hospital (I.H.), Manchester; Department of Paediatric Neurology (M.I.) University Hospital Southampton; John Walton Muscular Dystrophy Research Centre (C.M.-B.), Institute of Genetic Medicine, Newcastle University; and Dubowitz Neuromuscular Centre (M.S.), UCL Great Ormond Street Institute of Child Health, London, UK. 2From the Institute I-motion (K.A.-G., A.M.S., E.G., M.A., T.G., L.S.), Pediatric Intensive Care Unit (J. Rambaud), and Department of Pediatric Pneumology (J.T.), Armand Trousseau Hospital, Paris, France; Neuromuscular Reference Centre (A.D., L.S.), Citadelle Hospital, Liege, Belgium; Department of Pediatric Physical Medicine and Rehabilitation (C.V.), University Hospital of Lyon; Department of Child Neurology (C.C.), University Hospital of Toulouse; Department of Child Neurology (J. Ropars), University Hospital of Brest; Department of Pediatrics (M.C.), University Hospital of Dijon, France; Department of Neurology & Neurosurgery (I.C.), Brain Center Rudolf Magnus, UMC Utrecht, the Netherlands; Royal Manchester Children's Hospital (I.H.), Manchester; Department of Paediatric Neurology (M.I.) University Hospital Southampton; John Walton Muscular Dystrophy Research Centre (C.M.-B.), Institute of Genetic Medicine, Newcastle University; and Dubowitz Neuromuscular Centre (M.S.), UCL Great Ormond Street Institute of Child Health, London, UK. l.servais@institut-myologie.org. PMID: 30158155 DOI:10.1212/WNL.0000000000006281

Respir Med. 2018 Aug 22. pii: S0954-6111(18)30276-2. doi: 10.1016/j.rmed.2018.08.010. [Epub ahead of print]

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 49/50

Letter to the Editor: Impact of invasive ventilation on survival when non-invasive ventilation is ineffective in patients with Duchenne muscular dystrophy: A prospective cohort. Bach JR1, Liu SB2, Potpally N3, Ishikawa Y4, Gonçalves MR5. 1Department of Physical Medicine and Rehabilitation, Rutgers University - New Jersey Medical School, Behavioral Health Sciences Building F1559, 183 South Orange Ave, Newark, NJ, USA. Electronic address: bachjr@njms.rutgers.edu. 2Rutgers University - New Jersey Medical School, Behavioral Health Sciences Building F1559, 183 South Orange Ave, Newark, NJ, 07103, USA. Electronic address: susan.bliu@gmail.com. 3Rutgers University - New Jersey Medical School, Behavioral Health Sciences Building F1559, 183 South Orange Ave, Newark, NJ, 07103, USA. Electronic address: np424@njms.rutgers.edu. 4Yakumo Byoin National Sanatorium, Department of Paediatrics, 123 Miyazono-cho, Yamakoshi-gun Yakumo, Hokkaido, 049-3198, Japan. Electronic address: yuka@msa.biglobe.ne.jp. 5Noninvasive Ventilatory Support Unit, Pulmonology Department, Emergency and Intensive Care Medicine Department, São João University Hospital, Faculty of Medicine, University of Porto, Portugal. Electronic address: goncalvesmr@gmail.com. KEYWORDS: Continuous non-invasive ventilatory support; Duchenne muscular dystrophy; Mechanical insufflation-exsufflation PMID: 30174109 DOI:10.1016/j.rmed.2018.08.010

[1] Boussaïd, G., Lofaso, F., Santos, D.B., Vaugier, I., Pottier, S., Prigent, H., Bahrami, S., Orlikowski, D. Impact of invasive ventilation on survival when non-invasive ventilation is ineffective in patients with Duchenne muscular dystrophy: a prospective cohort. Respir. Med. 2016;115:26–32 https://doi.org/10.1016/j.rmed.2016.04.009

J Physiol. 2018 Aug 30. doi: 10.1113/JP276954. [Epub ahead of print] Recovery of respiratory function in mdx mice co-treated with neutralizing interleukin-6 receptor antibodies and Urocortin-2. Burns DP1, Canavan L2, Rowland J2, O'Flaherty R1, Brannock M2, Drummond SE1, O'Malley D1, Edge D2, O'Halloran KD1. 1Department of Physiology, School of Medicine, College of Medicine & Health, University College Cork, Cork, Ireland. 2Department of Physiology, School of Medicine, Trinity Biomedical Sciences Institute, Trinity College Dublin, the University of Dublin, Dublin, Ireland. KEYWORDS: DMD; Urocortin-2; breathing; corticotrophin releasing factor; diaphragm muscle; interleukin-6; mdx PMID: 30160301 DOI:10.1113/JP276954

Neuromuscul Disord. 2018 Aug 4. pii: S0960-8966(18)31066-6. doi: 10.1016/j.nmd.2018.07.011. [Epub ahead of print]

Non invasive mechanical ventilation in DM1: The strong correlation between lung function, neurological-cognitive function and CTG repeats. Fiorentino G1, Esquinas AM2. 1UOC di Fisiopatologia, Malattie e Riabilitazione Respiratoria, AO Ospedali dei Colli, Napoli PO Monaldi Ospedale, Italy. Electronic address: giuseppefiorentino1@gmail.com. 2Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain. PMID: 30190168 DOI:10.1016/j.nmd.2018.07.011

[1] G Boussaïd, K Wahbi, P Laforet, B Eymard, T Stojkovic, A Behin, et al. Genotype and other determinants of respiratory function in myotonic dystrophy type 1 Neuromuscul Disord, 28 (3) (2018 March), pp. 222-228

Multidiscip Respir Med. 2018 Sep 1;13:32. doi: 10.1186/s40248-018-0145-4. eCollection 2018. Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report. Menzella F1, Codeluppi L2, Lusuardi M3, Galeone C1, Valzania F2, Facciolongo N1. 1Department of Medical Specialties, Pneumology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia- IRCCS, Via Amendola 2, 42122 Reggio Emilia, Italy.

Veille Neuromusculaire / Neuromuscular Alert

Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2018-09-1 du 27 Août au 10 Septembre 2018 (August 27 to September 10, 2018)

AFM-Téléthon (Service Documentation) – 24/09/2018 50/50

2Neuromotor & Rehabilitation Department, Neurology Unit, Arcispedale Santa Maria Nuova, Azienda USL di Reggio Emilia-IRCCS, Reggio Emilia, Italy. 3Unit of Respiratory Rehabilitation, Azienda USL di Reggio Emilia, S. Sebastiano Hospital, Correggio, Italy. KEYWORDS: Enzyme; Glycogen; Muscle biopsy; Respiratory failure; Ventilation PMID: 30186604 PMCID:PMC6119261 DOI:10.1186/s40248-018-0145-4 Free PMC Article