Article
Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations.
Journal of cellular and molecular medicine - 1 Oct 2009
Fidler Lee M, Wilson Gregory J, Liu Fanfan, Cui Xuezhi, Scherer Stephen W, Taylor Glenn P, Hamilton Robert M
Abstract excerpt
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder of cardiomyocyte intercalated disk proteins causing sudden death. Heterozygous mutations of the desmosomal protein plakophilin-2 (PKP-2) are the commonest genetic cause of ARVC. Abnormal gap junction connexin43 expression has been reported in autosomal dominant forms of ARVC (Naxos and Carvajal disease) caused by homozygous mutations of...
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