Article
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Cardiovascular research - 1 Jan 2017
Te Riele Anneline S J M, Agullo-Pascual Esperanza, James Cynthia A, Leo-Macias Alejandra, Cerrone Marina, Zhang Mingliang, Lin Xianming, Lin Bin, Sobreira Nara L, Amat-Alarcon Nuria, Marsman Roos F, Murray Brittney, Tichnell Crystal, van der Heijden Jeroen F, Dooijes Dennis, van Veen Toon A B, Tandri Harikrishna, Fowler Steven J, Hauer Richard N W, Tomaselli Gordon, van den Berg Maarten P, Taylor Matthew R G, Brun Francesca, Sinagra Gianfranco, Wilde Arthur A M, Mestroni Luisa, Bezzina Connie R, Calkins Hugh, Peter van Tintelen J, Bu Lei, Delmar Mario, Judge Daniel P
Abstract excerpt
AIMS: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C. METHODS AND RESULTS: We performed whole-exome sequencing in six ARVD/C...
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