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Article

Genetic variation in RYR1 and malignant hyperthermia phenotypes.

British journal of anaesthesia - 1 Oct 2009

Carpenter D, Robinson R L, Quinnell R J, Ringrose C, Hogg M, Casson F, Booms P, Iles D E, Halsall P J, Steele D S, Shaw M-A, Hopkins P M

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is associated, in the majority of cases, with mutations in RYR1, the gene encoding the skeletal muscle ryanodine receptor. Our primary aim was to assess whether different RYR1 variants are associated with quantitative differences in MH phenotype. METHODS: The degree of in vitro pharmacological muscle contracture response and the baseline serum creatine kinase (CK)...

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Source

Identifiers

PMID: 19648156
DOI: 10.1093/bja/aep204

Genes

RYR1

Provenance

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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