Skip to Main content Skip to Navigation
Journal articles

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.
Complete list of metadata

Cited literature [24 references]  Display  Hide  Download
Contributor : Marc Bitoun Connect in order to contact the contributor
Submitted on : Tuesday, January 21, 2020 - 9:33:18 AM
Last modification on : Saturday, May 7, 2022 - 3:00:43 AM
Long-term archiving on: : Wednesday, April 22, 2020 - 2:40:44 PM


Bitoun et al Nat.Genet.2005.pd...
Files produced by the author(s)



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



Record views


Files downloads