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Article

Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia.

Anesthesiology - 1 Feb 2008

Anderson Ayuk A, Brown Rosemary L, Polster Brenda, Pollock Neil, Stowell Kathryn M

Abstract excerpt

BACKGROUND: Mutations in the skeletal muscle ryanodine receptor gene may result in altered calcium release from sarcoplasmic reticulum stores, giving rise to malignant hyperthermia (MH). MH is a pharmacogenetic skeletal muscle disorder triggered by volatile anesthetics and depolarizing muscle relaxants. Diagnosis of MH is by in vitro contracture testing of quadriceps muscle. DNA analysis of causative mutations is...

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PMID: 18212565
DOI: 10.1097/01.anes.0000299431.81267.3e

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

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