Article
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Neuromuscular disorders : NMD - 1 Mar 2013
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
Abstract excerpt
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 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such...
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