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Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

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). Littl...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839566/
https://www.ncbi.nlm.nih.gov/pubmed/27100291
http://dx.doi.org/10.1371/journal.pone.0153851