Functional effects of the <it>TMEM43 </it>Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

<p>Abstract</p> <p>Background</p> <p>The Ser358Leu mutation in <it>TMEM43</it>, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly...

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Bibliographic Details
Main Authors: Rajkumar Revathi, Sembrat John C, McDonough Barbara, Seidman Christine E, Ahmad Ferhaan
Format: Article
Language:English
Published: BMC 2012-03-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/13/21