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Article

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

Proceedings of the National Academy of Sciences of the United States of America - 30 Mar 1999

Lynch P J, Tong J, Lehane M, Mallet A, Giblin L, Heffron J J, Vaughan P, Zafra G, MacLennan D H, McCarthy T V

Abstract excerpt

Central core disease is a rare, nonprogressive myopathy that is characterized by hypotonia and proximal muscle weakness. In a large Mexican kindred with an unusually severe and highly penetrant form of the disorder, DNA sequencing identified an I4898T mutation in the C-terminal transmembrane/lumi...

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Source

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Identifiers

PMID: 10097181
DOI: 10.1073/pnas.96.7.4164
PMCID: PMC22438

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10097181-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

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Research trail→

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.PMID 10097181Read ↗

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.Semantic proximity Read ↗

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Semantic proximity Read ↗

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Semantic proximity Read ↗

Ryanodine receptor defects in muscle genetic diseases.Semantic proximity Read ↗

Single Channel Properties of Heterotetrameric Mutant RyR1 Ion Channels Linked to Core MyopathiesSemantic proximity Read ↗

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.Semantic proximity Read ↗

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

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

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.Semantic proximity Read ↗

Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.Semantic proximity Read ↗

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation in RyR1 gene in an Indian family affected with congenital myopathySemantic proximity Read ↗

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