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- Title
Mutations in dynamin 2 cause dominant centronuclear myopathy.
- Authors
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
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.
- Publication
Nature genetics, 2005, Vol 37, Issue 11, p1207
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1657