Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2

Long QT syndrome (LQTS) is an inherited disorder characterized by prolonged QT intervals and potentially life-threatening arrhythmias. Mutations in 12 different genes have been associated with LQTS. Here we describe a patient with LQTS who has a mutation in KCNQ1 as well as a polymorphism in KCNH2....

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Cordeiro, Jonathan M., Perez, Guillermo J., Schmitt, Nicole, Pfeiffer, Ryan, Nesterenko, Vladislav V., Burashnikov, Elena, Veltmann, Christian, Borggrefe, Martin, Wolpert, Christian, Schimpf, Rainer, Antzelevitch, Charles
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3076201/
https://ncbi.nlm.nih.gov/pubmed/21164565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1139/y10-094
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires