KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia

We describe a mutation (E299V) in KCNJ2, the gene that encodes the strong inward rectifier K(+) channel protein (Kir2.1), in an 11-y-old boy. The unique short QT syndrome type-3 phenotype is associated with an extremely abbreviated QT interval (200 ms) on ECG and paroxysmal atrial fibrillation. Gene...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Deo, Makarand, Ruan, Yanfei, Pandit, Sandeep V., Shah, Kushal, Berenfeld, Omer, Blaufox, Andrew, Cerrone, Marina, Noujaim, Sami F., Denegri, Marco, Jalife, José, Priori, Silvia G.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2013
Pynciau:
Biological Sciences
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600465/
https://ncbi.nlm.nih.gov/pubmed/23440193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1218154110
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