Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations.

Abstract

Mutations of the cardiac ryanodine receptor (RyR2) gene cause catecholaminergic polymorphic ventricular tachycardia, which sometimes results in a finding of sudden unexplained death (SUD) at autopsy. We found a novel mutation (V2321M) in exon 46 of the RyR2 gene in a SUD case. V2321M was localized in a highly conservative site of the RyR2 gene, but was not… (More)
DOI: 10.1016/j.legalmed.2007.12.003

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Cite this paper

@article{Nishio2008IdentificationOA, title={Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations.}, author={Hajime Nishio and Misa Iwata and Akiyoshi Tamura and Tokiko Miyazaki and Kento Tsuboi and Koichi Suzuki}, journal={Legal medicine}, year={2008}, volume={10 4}, pages={196-200} }