Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

Abstract The variant c.926C > T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relatives (17 individuals). The carriers showed a mil...

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Autores principales: Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/78136d3d7b394d9da2840cbe7a5654c8
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