| Literature DB >> 15489853 |
Brenda Gerull1, Arnd Heuser, Thomas Wichter, Matthias Paul, Craig T Basson, Deborah A McDermott, Bruce B Lerman, Steve M Markowitz, Patrick T Ellinor, Calum A MacRae, Stefan Peters, Katja S Grossmann, Jörg Drenckhahn, Beate Michely, Sabine Sasse-Klaassen, Walter Birchmeier, Rainer Dietz, Günter Breithardt, Eric Schulze-Bahr, Ludwig Thierfelder.
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.Entities:
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Year: 2004 PMID： 15489853 DOI： 10.1038/ng1461
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330