The cardiac sodium channel mutation delQKP 1507–1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death

AIM: We report diverse phenotypic consequences of the delQKP-1507–1509 cardiac sodium channel mutation in three generations of a Chinese family. METHODS AND RESULTS: Clinical and electrocardiographic (ECG), echocardiographic examination was followed by direct sequencing of SCN5A, KCNQ1, HERG, and LA...

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Detalles Bibliográficos
Autores principales: Shi, Ruiming, Zhang, Yanmin, Yang, Chun, Huang, Chen, Zhou, Xihui, Qiang, Hua, Grace, Andrew A., Huang, Christopher L.-H., Ma, Aiqun
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2573028/
https://www.ncbi.nlm.nih.gov/pubmed/18697752
http://dx.doi.org/10.1093/europace/eun202

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