Nature Genetics
36, 1162 - 1164 (2004)
Published online: 17 October 2004; | doi:10.1038/ng1461
There is a Corrigendum (January 2005) associated with this Brief Communication.
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathyBrenda Gerull1, 2, 7, Arnd Heuser1, 2, 7, Thomas Wichter3, Matthias Paul3, Craig T Basson4, Deborah A McDermott4, Bruce B Lerman4, Steve M Markowitz4, Patrick T Ellinor5, Calum A MacRae5, Stefan Peters6, Katja S Grossmann1, Beate Michely1, 2, Sabine Sasse-Klaassen1, Walter Birchmeier1, Rainer Dietz2, Günter Breithardt3, Eric Schulze-Bahr3
& Ludwig Thierfelder1, 21
Max-Delbrüeck Center for Molecular Medicine, D-13092 Berlin-Buch, Germany. 2
Department of Clinical and Molecular Cardiology, Franz-Volhard Clinic, HELIOS Clinics GmbH, Charité, Humboldt University Berlin, D-13125 Berlin, Germany. 3
Department of Cardiology and Angiology, University Hospital of Münster, and the Institute for Arteriosclerosis Research at the University of Münster, D-48149 Münster, Germany. 4
Greenberg Cardiology Division, Dept. of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA. 5
Cardiac Arrhythmia Service and Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. 6
Department of Cardiology, Klinikum Quedlinburg, D-06484 Quedlinburg, Germany. 7
These authors contributed equally to this work.
Correspondence should be addressed to Ludwig Thierfelder lthier@mdc-berlin.deArrhythmogenic 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
