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Journal Articles Nature Genetics Year : 2005

Mutations in dynamin 2 cause dominant Centronuclear Myopathy

Abstract

Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion. The transfected mutants showed reduced labeling in the centrosome, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function.
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inserm-02446662 , version 1 (21-01-2020)

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Marc Bitoun, Svetlana Maugenre, Pierre-Yves Jeannet, Emmanuelle Lacène, Xavier Ferrer, et al.. Mutations in dynamin 2 cause dominant Centronuclear Myopathy. Nature Genetics, 2005, 37 (11), pp.1207-1209. ⟨10.1038/ng1657⟩. ⟨inserm-02446662⟩
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