Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events

Dysfunction of potassium voltage-gated channel subfamily Q member 1 (KCNQ1) is a primary cause of long QT syndrome type 1 (LQT1). Here, we report a missense mutation P441L in KCNQ1 C-terminus of a 37-year-old woman with severe LQT1 phenotype. Variant P441L transporting to the plasma membrane and int...

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Detalles Bibliográficos
Autores principales: Lu, Haoyang, Ding, Wen, Xiao, Hui, Dai, Manyu, Xue, Yangcheng, Jia, Zhuoran, Guo, Jie, Wu, Mengzuo, Shen, Bing, Zhao, Ren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659898/
https://www.ncbi.nlm.nih.gov/pubmed/36386331
http://dx.doi.org/10.3389/fcvm.2022.922335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9659898/
https://www.ncbi.nlm.nih.gov/pubmed/36386331
http://dx.doi.org/10.3389/fcvm.2022.922335

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