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Article

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Skeletal muscle - 16 Nov 2020

Lawal Tokunbor A, Todd Joshua J, Witherspoon Jessica W, Bönnemann Carsten G, Dowling James J, Hamilton Susan L, Meilleur Katherine G, Dirksen Robert T

Abstract excerpt

The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since then, RYR1-related myopathies (RYR1-RM) have been described as rare, histopathologically and clinically...

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Identifiers

PMID: 33190635
DOI: 10.1186/s13395-020-00243-4
PMCID: PMC7667763

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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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