Article
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Circulation. Cardiovascular genetics - 1 Oct 2009
Bhuiyan Zahurul A, Jongbloed Jan D H, van der Smagt Jasper, Lombardi Paola M, Wiesfeld Ans C P, Nelen Marcel, Schouten Meyke, Jongbloed Roselie, Cox Moniek G P J, van Wolferen Marleen, Rodriguez Luz M, van Gelder Isabelle C, Bikker Hennie, Suurmeijer Albert J H, van den Berg Maarten P, Mannens Marcel M A M, Hauer Richard N W, Wilde Arthur A M, van Tintelen J Peter
Abstract excerpt
BACKGROUND: This study aimed to evaluate the prevalence and type of mutations in the major desmosomal genes, Plakophilin-2 (PKP2), Desmoglein-2 (DSG2), and Desmocollin-2 (DSC2), in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. We also aimed to distinguish relevant clinical and ECG parameters. METHODS AND RESULTS: Clinical evaluation was performed according to the Task Force Criteria...
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