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Article

Central core disease: clinical, pathological, and genetic features.

Archives of disease in childhood - 1 Dec 2003

Quinlivan R M, Muller C R, Davis M, Laing N G, Evans G A, Dwyer J, Dove J, Roberts A P, Sewry C A

Abstract excerpt

Central core disease (CCD) is a dominantly inherited congenital myopathy allelic to malignant hyperthermia (MH) caused by mutations in the RYR1 gene on chromosome 19q13.1. Eleven individuals with RYR1 mutations are described. Four index cases showed features consistent with a congenital myopathy (hypotonia, delayed motor milestones, and skeletal abnormalities including congenital hip dislocation and scoliosis)....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14670767
DOI: 10.1136/adc.88.12.1051
PMCID: PMC1719384

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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