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

Item Type:	Article
Title:	Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Creators Name:	Gerull, B. and Heuser, A. and Wichter, T. and Paul, M. and Basson, C.T. and McDermott, D.A. and Lerman, B.B. and Markowitz, S.M. and Ellinor, P.T. and MacRae, C.A. and Peters, S. and Grossmann, K.S. and Drenckhahn, J. and Michely, B. and Sasse-Klaassen, S. and Birchmeier, W. and Dietz, R. and Breithardt, G. and Schulze-Bahr, E. and Thierfelder, L.
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.
Keywords:	Arrhythmogenic Right Ventricular Dysplasia, Desmosomes, Molecular Sequence Data, Mutation, Plakophilins, Proteins
Source:	Nature Genetics
ISSN:	1061-4036
Publisher:	Nature Publishing Group
Volume:	36
Number:	11
Page Range:	1162-1164
Date:	November 2004
Additional Information:	Erratum in: Nat Genet. 2005 Jan;37(1):106
Official Publication:	https://doi.org/10.1038/ng1461
PubMed:	View item in PubMed

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