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Article

Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia.

Journal of neuromuscular diseases - 1 Jan 2020

Schiemann Anja H, Roesl Cornelia, Pollock Neil, Langton Elaine, Bulger Terasa, Stowell Kathryn M

Abstract excerpt

BACKGROUND: The ryanodine receptor 1 (RyR1) is a major skeletal muscle calcium release channel located in the sarcoplasmic reticulum and involved in excitation-contraction coupling. Variants in the gene encoding RyR1 have been linked to a range of neuromuscular disorders including myopathies and malignant hyperthermia (MH). OBJECTIVE: We have identified three RYR1 variants (c.1983 G>A, p.Trp661*; c.7025A>G,...

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PMID: 31903994
DOI: 10.3233/JND-190430

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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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Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia.PMID 31903994Read ↗

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