TY  - JOUR
AU  - Jiménez-Jáimez, Juan
AU  - Palomino Doza, Julián
AU  - Ortega, Ángeles
AU  - Macías-Ruiz, Rosa
AU  - Perin, Francesca
AU  - Rodríguez-Vázquez Del Rey, M Mar
AU  - Ortiz-Genga, Martín
AU  - Monserrat, Lorenzo
AU  - Barriales-Villa, Roberto
AU  - Blanca, Enrique
AU  - Álvarez, Miguel
AU  - Tercedor, Luis
PY  - 2016
DO  - 10.1371/journal.pone.0153851
UR  - http://hdl.handle.net/10668/2305
T2  - PloS one
AB  - BACKGROUNDCalmodulin 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...
LA  - en
PB  - Public Library of Science
KW  - Calcio
KW  - Calmodulina
KW  - Niño
KW  - ADN
KW  - Muerte súbita cardíaca
KW  - Epinefrina
KW  - Síndrome de QT prolongado
KW  - Mutación
KW  - Padres
KW  - Penetrancia
KW  - España
KW  - Taquicardia ventricular
KW  - Fibrilación Ventricular
KW  - Complejos prematuros ventriculares
KW  - Medical Subject Headings::Chemicals and Drugs::Inorganic Chemicals::Elements::Metals, Alkaline Earth::Calcium
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Intracellular Calcium-Sensing Proteins::Calmodulin
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child
KW  - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Heart Arrest::Death, Sudden, Cardiac
KW  - Medical Subject Headings::Chemicals and Drugs::Organic Chemicals::Alcohols::Amino Alcohols::Ethanolamines::Epinephrine
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Long QT Syndrome
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Named Groups::Persons::Parents
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Inheritance Patterns::Penetrance
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Tachycardia::Tachycardia, Ventricular
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Ventricular Fibrillation
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Cardiac Complexes, Premature::Ventricular Premature Complexes
TI  - Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
TY  - research article
ER  -