Article
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.
Clinical chemistry - 1 Jul 2004
Bagattin Alessia, Veronese Caterina, Bauce Barbara, Wuyts Wim, Settimo Luca, Nava Andrea, Rampazzo Alessandra, Danieli Gian Antonio
Abstract excerpt
BACKGROUND: Mutations in the RYR2 gene, which encodes the cardiac ryanodine receptor, have been reported in patients showing either arrhythmogenic right ventricular cardiomyopathy, type 2, or stress-induced polymorphic ventricular tachycardia. Both clinical phenotypes are characterized by a high risk of sudden death. Detection of RYR2 mutations is particularly important because beta-blocker treatment has been...
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