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Article

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscular disorders : NMD - 1 May 2009

Jungbluth Heinz, Lillis Suzanne, Zhou Haiyan, Abbs Stephen, Sewry Caroline, Swash Michael, Muntoni Francesco

Abstract excerpt

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with a wide range of phenotypes including the malignant hyperthermia (MH) susceptibility trait, Central Core Disease (CCD) and other congenital myopathies characterized by early onset and predominant proximal weakness. We report a patient presenting at 77 years with a predominant axial myopathy associated with prominent...

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Source

Identifiers

PMID: 19303294
DOI: 10.1016/j.nmd.2009.02.005

Genes

RYR1

Variants

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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