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Article

Central core disease.

Orphanet journal of rare diseases - 15 May 2007

Jungbluth Heinz

Abstract excerpt

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip...

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Topics

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Share to Diagnosis, Differential
Share to Genetic Testing
Share to Infant, Newborn

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

Share to Malignant Hyperthermia

Share to Muscle, Skeletal

Share to Myopathy, Central Core

Share to Ryanodine Receptor Calcium Release Channel

Share to Cardiomyopathy, Hypertrophic

Source

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Identifiers

PMID: 17504518
DOI: 10.1186/1750-1172-2-25
PMCID: PMC1887524

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Central core disease: clinical, pathological, and genetic features.Semantic proximity Read ↗

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Central core disease due to recessive mutations in RYR1 gene: is it more common than described?Semantic proximity Read ↗

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.Semantic proximity Read ↗

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.Semantic proximity Read ↗

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.Semantic proximity Read ↗

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