Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutation...

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Detalhes bibliográficos
Main Authors: Catteruccia, Michela, Fattori, Fabiana, Codemo, Valentina, Ruggiero, Lucia, Maggi, Lorenzo, Tasca, Giorgio, Fiorillo, Chiara, Pane, Marika, Berardinelli, Angela, Verardo, Margherita, Bragato, Cinzia, Mora, Marina, Morandi, Lucia, Bruno, Claudio, Santoro, Lucio, Pegoraro, Elena, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele
Formato: Artigo
Idioma:Inglês
Publicado em: Pergamon Press 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3594745/
https://ncbi.nlm.nih.gov/pubmed/23394783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.12.009
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