Variants in the 3′ untranslated region of the KCNQ1-encoded K(v)7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner

AIMS: Heterozygous mutations in KCNQ1 cause type 1 long QT syndrome (LQT1), a disease characterized by prolonged heart rate-corrected QT interval (QTc) and life-threatening arrhythmias. It is unknown why disease penetrance and expressivity is so variable between individuals hosting identical mutatio...

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Detalles Bibliográficos
Autores principales: Amin, Ahmad S., Giudicessi, John R., Tijsen, Anke J., Spanjaart, Anne M., Reckman, Yolan J., Klemens, Christine A., Tanck, Michael W., Kapplinger, Jamie D., Hofman, Nynke, Sinner, Moritz F., Müller, Martina, Wijnen, Wino J., Tan, Hanno L., Bezzina, Connie R., Creemers, Esther E., Wilde, Arthur A. M., Ackerman, Michael J., Pinto, Yigal M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Fasttrack Clinical
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303714/
https://www.ncbi.nlm.nih.gov/pubmed/22199116
http://dx.doi.org/10.1093/eurheartj/ehr473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303714/
https://www.ncbi.nlm.nih.gov/pubmed/22199116
http://dx.doi.org/10.1093/eurheartj/ehr473

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