Article
A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
Circulation research - 22 Jul 2011
Meli Albano C, Refaat Marwan M, Dura Miroslav, Reiken Steven, Wronska Anetta, Wojciak Julianne, Carroll Joan, Scheinman Melvin M, Marks Andrew R
Abstract excerpt
RATIONALE: Mutations in the cardiac type 2 ryanodine receptor (RyR2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). CPVT-associated RyR2 mutations cause fatal ventricular arrhythmias in young individuals during β-adrenergic stimulation. OBJECTIVE: This study sought to determine the effects of a novel RyR2-G230C mutation and whether this mutation and RyR2-P2328S alter the...
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