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

• Main Authors: Rajkumar Revathi (Author), Sembrat John C (Author), McDonough Barbara (Author), Seidman Christine E (Author), Ahmad Ferhaan (Author)
• פורמט: ספר
• יצא לאור: BMC, 2012-03-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

<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...