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Coexistence of Andersen–Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family
BACKGROUND: Andersen–Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Ris...
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| Publicat a: | Ann Noninvasive Electrocardiol |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6931717/ https://ncbi.nlm.nih.gov/pubmed/26109178 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/anec.12283 |
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