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Article

CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca2+ release termination and diminishes protein expression.

PloS one - 1 Jan 2017

Liu Yingjie, Wei Jinhong, Wong King Yuen Siobhan M, Sun Bo, Tang Yijun, Wang Ruiwu, Van Petegem Filip, Chen S R Wayne

Abstract excerpt

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 individuals has reduced penetrance. The molecular basis for the incomplete disease penetrance in this family is...

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PMID: 28961276
DOI: 10.1371/journal.pone.0184177
PMCID: PMC5621672

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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