Article
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Nature genetics - 1 Nov 2004
Gerull Brenda, Heuser Arnd, Wichter Thomas, Paul Matthias, Basson Craig T, McDermott Deborah A, Lerman Bruce B, Markowitz Steve M, Ellinor Patrick T, MacRae Calum A, Peters Stefan, Grossmann Katja S, Drenckhahn Jörg, Michely Beate, Sasse-Klaassen Sabine, Birchmeier Walter, Dietz Rainer, Breithardt Günter, Schulze-Bahr Eric, Thierfelder Ludwig
Abstract excerpt
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...
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