Article
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.
American journal of human genetics - 1 Nov 2006
Syrris Petros, Ward Deirdre, Evans Alison, Asimaki Angeliki, Gandjbakhch Estelle, Sen-Chowdhry Srijita, McKenna William J
Abstract excerpt
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited myocardial disorder associated with arrhythmias, heart failure, and sudden death. To date, mutations in four genes encoding major desmosomal proteins (plakoglobin, desmoplakin, plakophilin-2, and desmoglein-2) have been implicated in the pathogenesis of ARVD/C. We screened 77 probands with ARVD/C for mutations in desmocollin-2...
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