Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

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. To establish the prevalence and character of PKP2...

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Veröffentlicht in:	Circulation (New York, N.Y.) N.Y.), 2006-04, Vol.113 (13), p.1650-1658
Hauptverfasser:	VAN TINTELEN, J. Peter, ENTIUS, Mark M, HOFSTRA, Robert M. W, OTTERSPOOR, Luuk C, DOEVENDANS, Pieter A. F. M, RODRIGUEZ, Luz-Maria, VAN GELDER, Isabelle C, HAUER, Richard N. W, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Arrhythmogenic Right Ventricular Dysplasia - diagnosis Arrhythmogenic Right Ventricular Dysplasia - genetics Arrhythmogenic Right Ventricular Dysplasia - physiopathology Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous DNA Mutational Analysis Female Haplotypes Heterozygote Humans Male Medical sciences Mutation Plakophilins - genetics
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