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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.

Author information

Affiliations

  • 1. Max-Delbrüeck Center for Molecular Medicine, D-13092 Berlin-Buch, Germany.
      Authors
    • Gerull B 1
    (1 author)

ORCIDs linked to this article

Nature Genetics, 17 Oct 2004, 36(11):1162-1164
https://doi.org/10.1038/ng1461 PMID: 15489853 

This article has been corrected. See Nat Genet. 2005 Jan;37(1):106.

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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Read article at publisher's site: https://doi.org/10.1038/ng1461

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Funding 

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NHLBI NIH HHS (1)