Affiliation: Harvard University
- Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathyRevathi Rajkumar
UPMC Heart and Vascular Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
BMC Med Genet 13:21. 2012..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 poorly understood...