Article
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
PloS one - 1 Jan 2016
Jiménez-Jáimez Juan, Palomino Doza Julián, Ortega Ángeles, Macías-Ruiz Rosa, Perin Francesca, Rodríguez-Vázquez del Rey M Mar, Ortiz-Genga Martín, Monserrat Lorenzo, Barriales-Villa Roberto, Blanca Enrique, Álvarez Miguel, Tercedor Luis
Abstract excerpt
BACKGROUND: Calmodulin 1, 2 and 3 (CALM) mutations have been found to cause cardiac arrest in children at a very early age. The underlying aetiology described is long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and idiopathic ventricular fibrillation (IVF). Little phenotypical data about CALM2 mutations is available. OBJECTIVES: The aim of this paper is to describe the...
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