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Article

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Neuromuscular disorders : NMD - 1 Feb 2003

Davis M R, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller C R, Laing N G

Abstract excerpt

The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has...

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Share to Genes, Dominant
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Diseases

Share to Mutation, Missense

Share to Myopathy, Central Core

Share to Peptide Fragments

Share to Polymorphism, Single-Stranded Conformational

Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 12565913
DOI: 10.1016/s0960-8966(02)00218-3

Genes

RYR1

Provenance

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.

Related research

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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.PMID 12565913Read ↗

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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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