TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.

TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of myocardium in the right ventricular free wall and frequently results in life-threatening ventricular arrhythmias and sudden cardiac death. A heterozygous missense mutation in th...

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Main Authors: Vinayakumar Siragam, Xuezhi Cui, Stephane Masse, Cameron Ackerley, Shabana Aafaqi, Linn Strandberg, Michael Tropak, Michael D Fridman, Kumaraswamy Nanthakumar, Jun Liu, Yu Sun, Bin Su, Caroline Wang, Xiaoru Liu, Yuqing Yan, Ariel Mendlowitz, Robert M Hamilton
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0109128
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https://doi.org/10.1371/journal.pone.0109128

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