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Article

Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.

Anesthesia and analgesia - 1 Feb 2014

Schiemann Anja H, Paul Neeti, Parker Remai, Pollock Neil, Bulger Terasa F, Stowell Kathryn M

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disorder. More than 300 variants in the ryanodine receptor 1 (RYR1) have been associated with MH; however, only 31 have been identified as causative. To confirm a mutation in RYR1 as being causative for MH, segregation of the potential mutation in at least 2 unrelated families with MH susceptibility must be demonstrated and functional...

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Source

Identifiers

PMID: 24361844
DOI: 10.1213/ANE.0b013e3182a273ea

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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