CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca(2+) release termination and diminishes protein expression

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most lethal inherited cardiac arrhythmias mostly linked to cardiac ryanodine receptor (RyR2) mutations with high disease penetrance. Interestingly, a novel RyR2 mutation G357S discovered in a large family of more than 1400 in...

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Detalles Bibliográficos
Autores principales: Liu, Yingjie, Wei, Jinhong, Wong King Yuen, Siobhan M., Sun, Bo, Tang, Yijun, Wang, Ruiwu, Van Petegem, Filip, Chen, S. R. Wayne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621672/
https://www.ncbi.nlm.nih.gov/pubmed/28961276
http://dx.doi.org/10.1371/journal.pone.0184177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621672/
https://www.ncbi.nlm.nih.gov/pubmed/28961276
http://dx.doi.org/10.1371/journal.pone.0184177

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