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Article

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.

Neuromuscular disorders : NMD - 1 Jul 2004

Wehner Markus, Rueffert Henrik, Koenig Fritjoff, Olthoff Derk

Abstract excerpt

Malignant hyperthermia (MH) is a pharmacogenetic disorder with an autosomal dominant inheritance. During exposure to triggering agents as volatile anaesthetics, affected individuals may develop a potentially fatal hypermetabolic syndrome caused by excessive calcium release from the sarcoplasmic reticulum in skeletal muscle. More than 60 MH associated mutations were found in the gene of skeletal muscle ryanodine...

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Identifiers

PMID: 15210166
DOI: 10.1016/j.nmd.2004.03.011

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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