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Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

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Title: Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Authors: Fernández-Eulate G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France. gorka.fernandez@aphp.fr., Alfieri G; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.; Azienda Ospedaliera Universitaria Sant'Andrea, Rome, Italy., Spinazzi M; Neuromuscular Diseases Reference Center, Neurology Department, CHU Angers, Angers, France., Ackermann-Bonan I; Nuclear Magnetic Resonance Laboratory, Institut de Myologie, Paris, France., Duval F; Neuromuscular Diseases Reference Center 'AOC', Nerve-Muscle Unit, Pellegrin Hospital, CHU Bordeaux, Bordeaux, France., Solé G; Neuromuscular Diseases Reference Center 'AOC', Nerve-Muscle Unit, Pellegrin Hospital, CHU Bordeaux, Bordeaux, France., Caillon F; Radiology Department, CHU de Nantes, Nantes, France., Mercier S; Medical Genetics Department, Neuromuscular Diseases Reference Center 'AOC', CHU Nantes, Nantes, France., Pereon Y; Neuromuscular Diseases Reference Center 'AOC', Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, FILNEMUS, Euro-NMD, Nantes, France., Magot A; Neuromuscular Diseases Reference Center 'AOC', Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, FILNEMUS, Euro-NMD, Nantes, France., Pegat A; Electroneuromyography and Neuromuscular Diseases Unit, PACA-Réunion-Rhône Alpes Neuromuscular Diseases Reference Center, Pierre Wertheimer Hospital, Hospices Civils de Lyon, Lyon, France., Salort-Campana E; Neuromuscular Diseases and ALS Reference Center, FILNEMUS, CHU La Timone, APHM, Marseille, France., Chabrol B; Neuromuscular Diseases and ALS Reference Center, FILNEMUS, CHU La Timone, APHM, Marseille, France., Gorokhova S; Medical Genetics Department, CHU La Timone Enfants, APHM, Aix-Marseille University, Inserm, U1251-MMG, Marseille, France., Krahn M; Medical Genetics Department, CHU La Timone Enfants, APHM, Aix-Marseille University, Inserm, U1251-MMG, Marseille, France., Biancalana V; Diagnostic Genetics Laboratory, CRU Strasbourg, Strasbourg University, Strasbourg, France., Evangelista T; Muscle Pathology Unit, Institut de Myologie, Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Pitié-Salpêtrière Hospital, APHP, Paris, France., Behin A; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France., Metay C; Cardiomyogenetics and Molecular and Cellular Myogenetics Unit, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, Paris, France., Stojkovic T; Nord/Est/Ile-de-France Neuromuscular Diseases Reference Center, Institut de Myologie, Pitié-Salpêtrière Hospital, APHP, 47-83 Bd de L'Hôpital, 75013, Paris, France.
Source: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4008-4018. Date of Electronic Publication: 2024 Mar 22.
Publication Type: Journal Article
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1432-1459
DOI:10.1007/s00415-024-12298-0