Novel Timothy Syndrome Mutation Leading to Increase in CACNA1C Window Current

BACKGROUND: Timothy syndrome (TS) is a rare multi-system genetic disorder characterized by a myriad of abnormalities including QT prolongation, syndactyly, and neurological symptoms. The predominant genetic causes are recurrent de novo missense mutations in exon 8/8A of the CACNA1C-encoded L-type ca...

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Detalhes bibliográficos
Publicado no:Heart Rhythm
Main Authors: Boczek, Nicole J., Miller, Erin M., Ye, Dan, Nesterenko, Vlad V., Tester, David J., Antzelevitch, Charles, Czosek, Richard J., Ackerman, Michael J., Ware, Stephanie M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4907369/
https://ncbi.nlm.nih.gov/pubmed/25260352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2014.09.051
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