Article
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nature genetics - 1 Nov 2005
Bitoun Marc, Maugenre Svetlana, Jeannet Pierre-Yves, Lacène Emmanuelle, Ferrer Xavier, Laforêt Pascal, Martin Jean-Jacques, Laporte Jocelyn, Lochmüller Hanns, Beggs Alan H, Fardeau Michel, Eymard Bruno, Romero Norma B, Guicheney Pascale
Abstract excerpt
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...
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