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Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel
We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity...
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| Опубликовано в: : | Ann Noninvasive Electrocardiol |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Blackwell Publishing Inc
2011
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6932128/ https://ncbi.nlm.nih.gov/pubmed/21496174 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1542-474X.2011.00419.x |
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