Mutations in dynamin 2 cause dominant Centronuclear Myopathy - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Nature Genetics Année : 2005

Mutations in dynamin 2 cause dominant Centronuclear Myopathy

Résumé

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.
Fichier principal
Vignette du fichier
Bitoun et al Nat.Genet.2005.pdf (2.35 Mo) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

inserm-02446662 , version 1 (21-01-2020)

Identifiants

Citer

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⟩
461 Consultations
495 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More