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Article

Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.

Anesthesiology - 1 Nov 2013

Kim Jerry H, Jarvik Gail P, Browning Brian L, Rajagopalan Ramakrishnan, Gordon Adam S, Rieder Mark J, Robertson Peggy D, Nickerson Deborah A, Fisher Nickla A, Hopkins Philip M

Abstract excerpt

BACKGROUND: About half of malignant hyperthermia (MH) cases are associated with skeletal muscle ryanodine receptor 1 (RYR1) and calcium channel, voltage-dependent, L type, α1S subunit (CACNA1S) gene mutations, leaving many with an unknown cause. The authors chose to apply a sequencing approach to...

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Source

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Identifiers

PMID: 24013571
DOI: 10.1097/ALN.0b013e3182a8a998
PMCID: PMC4115638

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24013571-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.PMID 24013571Read ↗

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Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.Semantic proximity Read ↗

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