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Article

Update on RYR1-related myopathies.

Current opinion in neurology - 1 Oct 2024

Ogasawara Masashi, Nishino Ichizo

Abstract excerpt

PURPOSE OF REVIEW: RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which encodes the ryanodine receptor 1 (RYR1). This review discusses recent advances in the clinical features, pathology, pathogenesis, and therapeutics of RYR1-RM. RECENT FINDINGS: Although treatments such as salbutamol, pyridostigmine, and N-acetylcysteine have been explored as potential therapies...

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Identifiers

PMID: 38994695
DOI: 10.1097/WCO.0000000000001296

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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