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Article

Molecular characterization of the calcium release channel deficiency syndrome.

JCI insight - 6 Aug 2020

Tester David J, Kim C S John, Hamrick Samantha K, Ye Dan, O'Hare Bailey J, Bombei Hannah M, Fitzgerald Kristi K, Haglund-Turnquist Carla M, Atkins Dianne L, Nunez Luis A Ochoa, Law Ian, Temple Joel, Ackerman Michael J

Abstract excerpt

We identified a potentially novel homozygous duplication involving the promoter region and exons 1-4 of the gene encoding type 2 cardiac ryanodine receptor (RYR2) that is responsible for highly penetrant, exertion-related sudden deaths/cardiac arrests in the Amish community without an overt phenotype to suggest RYR2-mediated catecholaminergic polymorphic ventricular tachycardia (CPVT). Homozygous RYR2 duplication...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Induced Pluripotent Stem Cells

Share to Myocytes, Cardiac

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Share to Ryanodine Receptor Calcium Release Channel

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Source

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Identifiers

PMID: 32663189
DOI: 10.1172/jci.insight.135952
PMCID: PMC7455073

Genes

RYR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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