Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure, and are responsible for a premature mortality in affected males. Female carriers are usually asymptomatic but they may present with muscular weakness because of a hypot...

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Dades bibliogràfiques
Publicat a:Neuromuscul Disord
Autors principals: Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo
Format: Artigo
Idioma:Inglês
Publicat: Pergamon Press 2016
Matèries:
Research Papers
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862961/
https://ncbi.nlm.nih.gov/pubmed/27017278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2016.02.004
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