Comprehensive Open Reading Frame Mutational Analysis of the RYR2-Encoded Ryanodine Receptor/Calcium Channel in Patients Diagnosed Previously with Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

OBJECTIVE: To determine the spectrum and prevalence of mutations in the RYR2-encoded the cardiac ryanodine receptor in cases with exertional syncope and normal QTc. BACKGROUND: Mutations in the RYR2 cause type 1 catecholaminergic polymorphic ventricular tachycardia (CPVT1), a cardiac channelopathy w...

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Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2880864/
https://ncbi.nlm.nih.gov/pubmed/19926015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacc.2009.08.022
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