Article
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.
Circulation research - 18 Oct 2002
Postma Alex V, Denjoy Isabelle, Hoorntje Theo M, Lupoglazoff Jean-Marc, Da Costa Antoine, Sebillon Pascale, Mannens Marcel M A M, Wilde Arthur A M, Guicheney Pascale
Abstract excerpt
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrhythmogenic disorder characterized by syncopal events and sudden cardiac death at a young age during physical stress or emotion, in the absence of structural heart disease. We report the first nonsense mutations in the cardiac calsequestrin gene, CASQ2, in three CPVT families. The three mutations, a nonsense R33X, a splicing 532+1 G>A, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.