Article
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
PloS one - 1 Jan 2018
Hoorntje Edgar T, Posafalvi Anna, Syrris Petros, van der Velde K Joeri, Bolling Marieke C, Protonotarios Alexandros, Boven Ludolf G, Amat-Codina Nuria, Groeneweg Judith A, Wilde Arthur A, Sobreira Nara, Calkins Hugh, Hauer Richard N W, Jonkman Marcel F, McKenna William J, Elliott Perry M, Sinke Richard J, van den Berg Maarten P, Chelko Stephen P, James Cynthia A, van Tintelen J Peter, Judge Daniel P, Jongbloed Jan D H
Abstract excerpt
AIMS: Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the genetic substrate remains unknown. We hypothesized that plectin, a cytolinker protein encoded by the PLEC gene, could play a role in ARVC because it has been proposed to...
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