X-linked myotubular myopathy: A prospective international natural history study

OBJECTIVES: Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures. METHODS: We...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Annoussamy, Mélanie, Lilien, Charlotte, Gidaro, Teresa, Gargaun, Elena, Chê, Virginie, Schara, Ulrike, Gangfuß, Andrea, D'Amico, Adele, Dowling, James J., Darras, Basil T., Daron, Aurore, Hernandez, Arturo, de Lattre, Capucine, Arnal, Jean-Michel, Mayer, Michèle, Cuisset, Jean-Marie, Vuillerot, Carole, Fontaine, Stéphanie, Bellance, Rémi, Biancalana, Valérie, Buj-Bello, Ana, Hogrel, Jean-Yves, Landy, Hal, Servais, Laurent
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6550499/
https://ncbi.nlm.nih.gov/pubmed/30902907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000007319
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