A new missense mutation in caveolin-3 gene causes rippling muscle disease.
J Neurol Sci
; 243(1-2): 61-4, 2006 Apr 15.
Article
em En
| MEDLINE
| ID: mdl-16458928
Mutations of the Cav-3 gene are associated with distinct, sometimes overlapping muscle disease phenotypes. We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Músculo Esquelético
/
Predisposição Genética para Doença
/
Mutação de Sentido Incorreto
/
Caveolina 3
/
Doenças Musculares
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
2006
Tipo de documento:
Article