Article
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Circulation - 4 Apr 2006
van Tintelen J Peter, Entius Mark M, Bhuiyan Zahurul A, Jongbloed Roselie, Wiesfeld Ans C P, Wilde Arthur A M, van der Smagt Jasper, Boven Ludolf G, Mannens Marcel M A M, van Langen Irene M, Hofstra Robert M W, Otterspoor Luuk C, Doevendans Pieter A F M, Rodriguez Luz-Maria, van Gelder Isabelle C, Hauer Richard N W
Abstract excerpt
BACKGROUND: Mutations in the plakophilin-2 gene (PKP2) have been found in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC). Hence, genetic screening can potentially be a valuable tool in the diagnostic workup of patients with ARVC. METHODS AND RESULTS: To establish the prevalence and character of PKP2 mutations and to study potential differences in the associated phenotype, we...
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