Article
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
Journal of the American College of Cardiology - 24 Nov 2009
Medeiros-Domingo Argelia, Bhuiyan Zahurul A, Tester David J, Hofman Nynke, Bikker Hennie, van Tintelen J Peter, Mannens Marcel M A M, Wilde Arthur A M, Ackerman Michael J
Abstract excerpt
OBJECTIVES: This study was undertaken to determine the spectrum and prevalence of mutations in the RYR2-encoded cardiac ryanodine receptor in cases with exertional syncope and normal corrected QT interval (QTc). BACKGROUND: Mutations in RYR2 cause type 1 catecholaminergic polymorphic ventricular...
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