Mutations in dynamin 2 cause dominant centronuclear myopathy.
Nat Genet
; 37(11): 1207-9, 2005 Nov.
Article
en En
| MEDLINE
| ID: mdl-16227997
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.
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Bases de datos:
MEDLINE
Asunto principal:
Mutación Missense
/
Miopatías Estructurales Congénitas
/
Dinamina II
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Francia