Journal
NATURE GENETICS
Volume 36, Issue 11, Pages 1162-1164Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1461
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- NHLBI NIH HHS [R01 HL075431] Funding Source: Medline
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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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