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Article

Ryanodine receptors and their role in genetic diseases (review).

International journal of molecular medicine - 1 Sept 1998

Leeb T, Brenig B

Abstract excerpt

The skeletal muscle ryanodine receptor (RYR1) is a calcium release channel that mediates efflux of calcium ions from the sarcoplasmic reticulum into the myoplasm during excitation-contraction coupling. Mutations in the RYR1 gene have been detected in about 50% of the patients suffering from malignant hyperthermia (MH), but evidence is accumulating that other genetic defects can also lead to MH in humans. MH is a...

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Source

Identifiers

PMID: 9855701
DOI: 10.3892/ijmm.2.3.293

Genes

RYR1

Provenance

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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