Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Nat Genet
; 36(11): 1162-4, 2004 Nov.
Article
em En
| MEDLINE
| ID: mdl-15489853
ABSTRACT
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Displasia Arritmogênica Ventricular Direita
/
Mutação
Limite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article