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

被引：0
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作者：
Brenda Gerull
Arnd Heuser
Thomas Wichter
Matthias Paul
Craig T Basson
Deborah A McDermott
Bruce B Lerman
Steve M Markowitz
Patrick T Ellinor
Calum A MacRae
Stefan Peters
Katja S Grossmann
Beate Michely
Sabine Sasse-Klaassen
Walter Birchmeier
Rainer Dietz
Günter Breithardt
Eric Schulze-Bahr
Ludwig Thierfelder
机构：
[1] Max-Delbrüeck Center for Molecular Medicine,Department of Clinical and Molecular Cardiology
[2] Franz-Volhard Clinic,Department of Cardiology and Angiology
[3] HELIOS Clinics GmbH,Greenberg Cardiology Division
[4] Charité,Department of Cardiology
[5] Humboldt University Berlin,undefined
[6] University Hospital of Münster,undefined
[7] and the Institute for Arteriosclerosis Research at the University of Münster,undefined
[8] Dept. of Medicine,undefined
[9] Weill Medical College of Cornell University,undefined
[10] Cardiac Arrhythmia Service and Cardiovascular Research Center,undefined
[11] Massachusetts General Hospital,undefined
[12] Klinikum Quedlinburg,undefined
来源：
Nature Genetics | 2004年 / 36卷
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摘要：
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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页码：1162 / 1164
页数：2
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