Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Dysferlin is a 237-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B, Miyoshi myopathy (MM) and distal myopathy of the anterior tibialis. Considering that a secondary Dysferlin reduction has also been...

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Autori principali: Cacciottolo, Mafalda, Numitone, Gelsomina, Aurino, Stefania, Caserta, Imma Rosaria, Fanin, Marina, Politano, Luisa, Minetti, Carlo, Ricci, Enzo, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179367/
https://ncbi.nlm.nih.gov/pubmed/21522182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.70
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