Title : Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.

Pub. Date : 2020 Apr

PMID : 31994352






1 Functional Relationships(s)
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1 Structural analysis demonstrated the variant was located within the N-terminal domain of RyR2, likely leading to a gain-of-function effect facilitating enhanced calcium ion release. Calcium ryanodine receptor 2 Homo sapiens