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Article

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Pediatric neurology - 1 Aug 2014

Rocha João, Taipa Ricardo, Melo Pires Manuel, Oliveira Jorge, Santos Rosário, Santos Manuela

Abstract excerpt

BACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proxima...

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Identifiers

PMID: 24950660
DOI: 10.1016/j.pediatrneurol.2014.04.024

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24950660-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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