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Article

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

Journal of medical genetics - 1 Mar 2004

Shepherd S, Ellis F, Halsall J, Hopkins P, Robinson R

Abstract excerpt

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Topics

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Share to Cell Membrane
Share to DNA Mutational Analysis
Share to Genetic Linkage
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myopathy, Central Core

Share to Protein Structure, Tertiary

Share to Ryanodine Receptor Calcium Release Channel

Share to United Kingdom

Source

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Identifiers

PMID: 14985404
DOI: 10.1136/jmg.2003.014274
PMCID: PMC1735714

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

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RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.PMID 14985404Read ↗

Familial RYR 1 mutation associated with mild and severe central core disease.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 ↗

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease courseSemantic proximity Read ↗

Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.Semantic proximity Read ↗

PharmGKB summary: very important pharmacogene information for RYR1.Semantic proximity Read ↗

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.Semantic proximity Read ↗

Genotype-phenotype correlations in recessive RYR1-related myopathies.Semantic proximity Read ↗

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

Mutations in RYR1 in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Semantic proximity Read ↗

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