Article
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.
Neuromuscular disorders : NMD - 1 Jun 2010
Tosch Valérie, Vasli Nasim, Kretz Christine, Nicot Anne-Sophie, Gasnier Claire, Dondaine Nicolas, Oriot Denis, Barth Magalie, Puissant Hugues, Romero Norma B, Bönnemann Carsten G, Heller Betty, Duval Gilles, Biancalana Valérie, Laporte Jocelyn
Abstract excerpt
X-linked centronuclear myopathy (XLMTM), also called myotubular myopathy, is a severe congenital myopathy characterized by generalized hypotonia and weakness at birth and the typical histological finding of centralization of myo-nuclei. It is caused by mutations in the MTM1 gene encoding the 3-phosphoinositides phosphatase myotubularin. Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of...
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