Article
Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family.
Circulation. Arrhythmia and electrophysiology - 1 Mar 2022
Kato Koichi, Isbell Holly M, Fressart Véronique, Denjoy Isabelle, Debbiche Amal, Itoh Hideki, Poinsot Jacques, George Alfred L, Coulombe Alain, Shea Madeline A, Guicheney Pascale
Abstract excerpt
BACKGROUND: CaM (calmodulin), encoded by 3 separate genes (CALM1, CALM2, and CALM3), is a multifunctional Ca2+-binding protein involved in many signal transduction events including ion channel regulation. CaM variants may present with early-onset long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia, or sudden cardiac death. Most reported variants occurred de novo. We identified a novel...
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