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

Official URL:https://doi.org/10.1038/ng1461
PubMed:View item in PubMed
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.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Page Range:1162-1164
Date:November 2004
Keywords:Arrhythmogenic Right Ventricular Dysplasia, Desmosomes, Molecular Sequence Data, Mutation, Plakophilins, 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.
Publisher:Nature Publishing Group (U.S.A.)
Additional Information:Erratum in: Nat Genet. 2005 Jan;37(1):106
Item Type:Article

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