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

• Egile Nagusiak: Rajkumar Revathi (Egilea), Sembrat John C (Egilea), McDonough Barbara (Egilea), Seidman Christine E (Egilea), Ahmad Ferhaan (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2012-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...