Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) 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 Bibliography” 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 AFM-Téléthon. Previous reports are available on Myobase, the information tool about neuromuscular diseases. Sommaire par maladies / diseases Myoglobinaopathie – Myoglobinopathy ........................................................................................................ 3 Amyotrophies bulbospinales – Bulbospinal amyotrophies ........................................................................ 4 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 5 Canalopathies musculaires – Muscular channelopathies........................................................................... 6 Dystrophies musculaires congénitales – Congenital muscular dystrophies ........................................... 6 Collagénopathies – Collagenopathies........................................................................................................... 7 Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ........................... 7 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 8 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ....................................... 11 Dysferlinopathies – Dysferlinopathies ........................................................................................................ 11 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 12 Dystrophie musculaire oculopharyngée (DMOP) – Oculopharyngeal muscular dystrophy (OPMD) ... 13 Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 13 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ....................... 16 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ............................................................ 16 Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 19 Myopathies congénitales – Congenital myopathies .................................................................................. 22 Myopathies distales – Distal myopathies ................................................................................................... 23 Myopathies liées à la dynamine-2 – Dynamin-2 related myopathies ....................................................... 24 Myopathies liées à SEPN1 – SEPN1-related myopathies .......................................................................... 24 Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 25 Myopathies métaboliques – Metabolic myopathies ................................................................................... 31 Maladie de Pompe – Pompe disease ........................................................................................................... 33 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 34 Myopathies myofibrillaires – Myofibrillar myopathies............................................................................... 37 Titinopathies – Titinopathies ........................................................................................................................ 37 Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ..................................... 37 Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) .......................... 38 AFM-Téléthon (Service Documentation) – 03/04/2019 1/50 Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ................. 38 Divers – Miscellaneous ................................................................................................................................. 40 Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ............................................................................................. 43 Cardiologie – Cardiology .............................................................................................................................. 43 Électromyographie – Electromyography .................................................................................................... 45 Gastroentérologie / Nutrition – Gastroenterology / Nutrition ................................................................... 46 Imagerie médicale – Medical imaging ......................................................................................................... 46 Médecine physique et de réadaptation – Physical and rehabilitation medicine ..................................... 46 Nephrologie – Nephrology ............................................................................................................................ 47 Ophtalmologie – Ophthalmology ................................................................................................................. 47 Pneumologie – Pulmonogy .......................................................................................................................... 48 AFM-Téléthon (Service Documentation) – 03/04/2019 2/50 Veille Neuromusculaire / Neuromuscular bibliography Bibliographie sur les maladies neuromusculaires / Bibliography on neuromuscular disorders n° 2019-03-3 du 16 au 31 Mars 2019 (Mars 16 to 31, 2019) Myoglobinaopathie – Myoglobinopathy 1. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Olivé M1, Engvall M2,3, Ravenscroft G4, Cabrera-Serrano M5, Jiao H6,7, Bortolotti CA8, Pignataro M9, Lambrughi M8, Jiang H10, Forrest ARR4, Benseny-Cases N11, Hofbauer S12, Obinger C12, Battistuzzi G9, Bellei M8, Borsari M9, Di Rocco G8, Viola HM13, Hool LC13,14, Cladera J15, Lagerstedt-Robinson K16, Xiang F17, Wredenberg A3,18, Miralles F19, Baiges JJ20, Malfatti E21,22, Romero NB21,22, Streichenberger N23, Vial C24, Claeys KG25,26, Straathof CSM27, Goris A28, Freyer C3,18, Lammens M29,30,31, Bassez G32, Kere J6,7,33,34, Clemente P18, Sejersen T17, Udd B35,36,37, Vidal N38, Ferrer I38,39, Edström L40, Wedell A2,3, Laing NG41. 1Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain. [email protected]. 2Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden. 3Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden. 4Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia. 5Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain. 6Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden. 7Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden. 8Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy. 9Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy. 10School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, 6009, WA, Australia. 11ALBA Synchrotron Light Source, Cerdanyola del Vallès, Barcelona, 08290, Spain. 12Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria. 13School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia. 14Victor Chang Cardiac Research Institute, Darlinghurst, 2010, NSW, Australia. 15Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain. 16Department of Molecular Medicine and Surgery, Karolinska Institutet, and