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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy |
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| Authors: | 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 |
| Affiliation: | Max-Delbrüeck Center for Molecular Medicine, D-13092 Berlin-Buch, Germany. |
| 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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