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

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 mild LQTS ph...

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Detalles Bibliográficos
Autores principales: Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878757/
https://www.ncbi.nlm.nih.gov/pubmed/33574382
http://dx.doi.org/10.1038/s41598-021-81670-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878757/
https://www.ncbi.nlm.nih.gov/pubmed/33574382
http://dx.doi.org/10.1038/s41598-021-81670-1

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