Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Academic Article uri icon

Overview

MeSH Major

  • Arrhythmogenic Right Ventricular Dysplasia
  • Mutation
  • Proteins

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.

publication date

  • November 2004

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/ng1461

PubMed ID

  • 15489853

Additional Document Info

start page

  • 1162

end page

  • 4

volume

  • 36

number

  • 11