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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
- Source :
-
Nature genetics [Nat Genet] 2004 Nov; Vol. 36 (11), pp. 1162-4. Date of Electronic Publication: 2004 Oct 17. - Publication Year :
- 2004
-
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.
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 36
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 15489853
- Full Text :
- https://doi.org/10.1038/ng1461