Recurrent and founder mutations in the NetherlandsPlakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia

被引：0
作者：
P.A. van der Zwaag
M.G.P.J. Cox
C. van der Werf
A.C.P. Wiesfeld
J.D.H. Jongbloed
D. Dooijes
H. Bikker
R. Jongbloed
A.J.H. Suurmeijer
M.P. van den Berg
R.M.W. Hofstra
R.N.W. Hauer
A.A.M. Wilde
J.P. van Tintelen
机构：
[1] University Medical Center Groningen,Department of Genetics
[2] University Medical Center Groningen,Department of Genetics
[3] University of Groningen,Department of Cardiology
[4] University Medical Center Utrecht,Heart Failure Research Center, Department of Cardiology, Academic Medical Center
[5] Utrecht,Department of Cardiology
[6] and Interuniversity Cardiology Institute of the Netherlands,Department of Medical Genetics
[7] University of Amsterdam,Department of Clinical Genetics, Academic Medical Center
[8] University Medical Center Groningen,Department of Clinical Genetics
[9] University of Groningen,Department of Pathology
[10] University Medical Center Utrecht,Department of Cardiology, and Interuniversity Cardiology Institute of the Netherlands
[11] University of Amsterdam,Heart Failure Research Center, Department of Cardiology, Academic Medical Center
[12] Maastricht University Medical Center,Department of Genetics
[13] University Medical Center Groningen,undefined
[14] University of Groningen,undefined
[15] University Medical Center Groningen,undefined
[16] University of Groningen,undefined
[17] Groningen,undefined
[18] University of Amsterdam,undefined
[19] University Medical Center Groningen,undefined
[20] University of Groningen,undefined
[21] Groningen,undefined
[22] and Interuniversity Cardiology Institute of the Netherlands,undefined
来源：
Netherlands Heart Journal | 2010年 / 18卷
关键词：
Cardiomyopathy; ARVC/D; Genetics; PKP2; Founder Mutation;
D O I：
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中图分类号：
学科分类号：
摘要：
Background. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiac disease with reduced penetrance and a highly variable expression. Mutations in the gene encoding the plakophilin-2 gene (PKP2) are detected in about 50% of ARVC/D patients. The p.Arg79X mutation in PKP2 has been identified in Europe and North America and has been functionally characterised. We evaluated the prevalence of the p.Arg79X mutation in PKP2 in the Dutch population.
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页码：583 / 591
页数：8
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