Biophysical and Molecular Characterization of a Novel De Novo KCNJ2Mutation Associated With Andersen-Tawil Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Mimicry

Autor: Barajas-Martinez, Hector, Hu, Dan, Ontiveros, Gustavo, Caceres, Gabriel, Desai, Mayurika, Burashnikov, Elena, Scaglione, Jorge, Antzelevitch, Charles
Zdroj: Circulation: Cardiovascular Genetics; February 2011, Vol. 4 Issue: 1 p51-57, 7p
Abstrakt: Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1 (IK1or IKir2.1), have been identified in Andersen-Tawil syndrome. Andersen-Tawil syndrome is a multisystem inherited disease exhibiting periodic paralysis, cardiac arrhythmias, and dysmorphic features at times mimicking catecholaminergic polymorphic ventricular tachycardia.
Databáze: Supplemental Index