Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
Damilola Olubando, Claire Hopton, James Eden, Richard Caswell, N. Lowri Thomas, Stephen A. Roberts, Déborah Morris-Rosendahl, Luigi Venetucci, William G. Newman
Topics & Concepts
Catecholaminergic polymorphic ventricular tachycardiaRyanodine receptor 2Missense mutationBiologyGeneticsPhenotypeAlleleRyanodine receptorGeneReceptorCardiac electrophysiology and arrhythmiasIon channel regulation and functionCardiac Arrhythmias and Treatments