KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort

Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: KCNQ1 (LQT1), KCNH2 (LQT2...

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Detalles Bibliográficos
Autores principales: Lorca, Rebeca, Junco-Vicente, Alejandro, Pérez-Pérez, Alicia, Pascual, Isaac, Persia-Paulino, Yvan Rafael, González-Urbistondo, Francisco, Cuesta-Llavona, Elías, Fernández-Barrio, Bárbara C., Morís, César, Rubín, José Manuel, Coto, Eliecer, Gómez, Juan, Reguero, José Julián Rodríguez
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024605/
https://www.ncbi.nlm.nih.gov/pubmed/35455047
http://dx.doi.org/10.3390/life12040556

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024605/
https://www.ncbi.nlm.nih.gov/pubmed/35455047
http://dx.doi.org/10.3390/life12040556

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