Original article
Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family
La expresividad variable del síndrome de QT largo de una familia española se explica por la heterocigosis digénica en SCN5A y CACNA1C
Paloma Nieto-Marína,1, Juan Jiménez-Jáimezb,1, David Tinaqueroa, Silvia Alfayatea, Raquel G. Utrillaa, María del Mar Rodríguez Vázquez del Reyc, Francesca Perinc, Geòrgia Sarquella-Brugadad, Lorenzo Monserrate, Josep Brugadad, Luis Tercedorb, Juan Tamargoa, Eva Delpóna,2,
, Ricardo Caballeroa,2
Corresponding author
edelpon@med.ucm.es
Corresponding author: Departamento de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Plaza de Ramón y Cajal s/n, 28040 Madrid, Spain.
Corresponding author: Departamento de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Plaza de Ramón y Cajal s/n, 28040 Madrid, Spain.
a Departamento de Farmacología, Facultad de Medicina, Universidad Complutense de Madrid, Instituto de Investigación Sanitaria Gregorio Marañón, CIBERCV, Madrid, Spain
b Unidad de Arritmias, Hospital Universitario Virgen de las Nieves, Instituto de Investigación Biosanitaria de Granada, Granada, Spain
c Departamento de Cardiología Pediátrica, Hospital Universitario Virgen de las Nieves, Granada, Spain
d Departamento de Cardiología Pediátrica, Hospital San Joan de Déu, Hospitalet de Llobregat, Barcelona, Spain
e Departamento de Cardiología, Health in Code, A Coruña, Spain
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