Article
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
Journal of the American College of Cardiology - 24 May 2011
McNair William P, Sinagra Gianfranco, Taylor Matthew R G, Di Lenarda Andrea, Ferguson Debra A, Salcedo Ernesto E, Slavov Dobromir, Zhu Xiao, Caldwell John H, Mestroni Luisa
Abstract excerpt
OBJECTIVES: The aim of this study was to discern the role of the cardiac voltage-gated sodium ion channel SCN5A in the etiology of dilated cardiomyopathy (DCM). BACKGROUND: Dilated cardiomyopathy associates with mutations in the SCN5A gene, but the frequency, phenotype, and causative nature of these associations remain the focus of ongoing investigation. METHODS: Since 1991, DCM probands and family members have...
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