Mutations in dynamin 2 cause dominant centronuclear myopathy
Détails
ID Serval
serval:BIB_ADC611C8775A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mutations in dynamin 2 cause dominant centronuclear myopathy
Périodique
Nature Genetics
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
11/2005
Volume
37
Numéro
11
Pages
1207-9
Notes
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't --- Old month value: Nov
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't --- Old month value: Nov
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.
Mots-clé
Actins
Cell Membrane/metabolism
Centrosome/metabolism
Dynamin II/*genetics
Endocytosis
Female
Genes, Dominant
Humans
Male
Mutation, Missense/*genetics
Myopathies, Structural, Congenital/*genetics
Polymorphism, Single Nucleotide/genetics
Sequence Analysis, DNA
Pubmed
Web of science
Création de la notice
25/01/2008 11:11
Dernière modification de la notice
20/08/2019 16:17