Article
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.
Circulation - 24 Jan 2006
Syrris Petros, Ward Deirdre, Asimaki Angeliki, Sen-Chowdhry Srijita, Ebrahim Hatim Y, Evans Alison, Hitomi Nobuhiko, Norman Mark, Pantazis Antonios, Shaw Anthony L, Elliott Perry M, McKenna William J
Abstract excerpt
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by loss of cardiomyocytes and their replacement by adipose and fibrous tissue. It is considered a disease of cell adhesion because mutations in desmosomal genes, desmoplakin and plakoglobin, have been implicated in the pathogenesis of ARVC. In a recent report, mutations in plakophilin-2, a gene highly...
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