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Start Over Author "Peters, Stefan" Topic cardiomyopathies Publisher springer nature
1 results on '"Peters, Stefan"'

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

Author

Gerull, Brenda, Heuser, Arnd, Wichter, Thomas, Paul, Matthias, Basson, Craig T., McDermott, Deborah A., Lerman, Bruce B., Markowitz, Steve M., Ellinor, Patrick T., MacRae, Calum A., Peters, Stefan, Grossmann, Katja S., Michely, Beate, Sasse-Klaassen, Sabine, Birchmeier, Walter, Dietz, Rainer, Breithardt, Günter, Schulze-Bahr, Eric, and Thierfelder, Ludwig

Subjects
CARDIOMYOPATHIES, VENTRICULAR tachycardia, MYOSITIS, MUSCLE cells, TACHYARRHYTHMIAS, TACHYCARDIA
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. [ABSTRACT FROM AUTHOR]

Published
2004
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