Article
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
Circulation. Arrhythmia and electrophysiology - 1 Aug 2016
Gomez-Hurtado Nieves, Boczek Nicole J, Kryshtal Dmytro O, Johnson Christopher N, Sun Jennifer, Nitu Florentin R, Cornea Razvan L, Chazin Walter J, Calvert Melissa L, Tester David J, Ackerman Michael J, Knollmann Björn C
Abstract excerpt
BACKGROUND: Calmodulin (CaM) mutations are associated with severe forms of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). CaM mutations are found in 13% of genotype-negative long QT syndrome patients, but the prevalence of CaM mutations in genotype-negative CPVT patients is unknown. Here, we identify and characterize CaM mutations in 12 patients with genotype-negative but...
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