Article
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
American journal of human genetics - 1 Nov 2007
Asimaki Angeliki, Syrris Petros, Wichter Thomas, Matthias Paul, Saffitz Jeffrey E, McKenna William J
Abstract excerpt
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder associated with arrhythmias and sudden death. A recessive mutation in the gene encoding plakoglobin has been shown to cause Naxos disease, a cardiocutaneous syndrome characterized by ARVC and abnormalities of hair and skin. Here, we report, for the first time, a dominant mutation in the gene encoding plakoglobin in a German family...
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