Browsing by Author "McDonough, Barbara"

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Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy

Rajkumar, Revathi; Sembrat, John C; McDonough, Barbara Anne; Seidman, Christine Edry; Ahmad, Ferhaan (BioMed Central, 2012)

Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are ...