Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
Neurology
; 59(4): 620-3, 2002 Aug 27.
Article
em En
| MEDLINE
| ID: mdl-12196663
ABSTRACT
Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fibrilação Atrial
/
Proteínas Nucleares
/
Lipodistrofia
/
Distrofias Musculares
/
Cardiomiopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Neurology
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Holanda