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Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation
Timothy Syndrome (TS) is a multisystem disorder, prominently featuring cardiac action potential prolongation with paroxysms of life-threatening arrhythmias. The underlying defect is a single de novo missense mutation in Ca(V)1.2 channels, either G406R or G402S. Notably, these mutations are often vie...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740114/ https://www.ncbi.nlm.nih.gov/pubmed/26822303 http://dx.doi.org/10.1038/ncomms10370 |