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Article

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet journal of rare diseases - 6 Aug 2013

Amburgey Kimberly, Bailey Angela, Hwang Jean H, Tarnopolsky Mark A, Bonnemann Carsten G, Medne Livija, Mathews Katherine D, Collins James, Daube Jasper R, Wellman Gregory P, Callaghan Brian, Clarke Nigel F, Dowling James J

Abstract excerpt

BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia, and genotype-phenotype patterns have emerged from the study of these mutations that have contributed to the understanding of disease pathogenesis. The recent availability of genetic...

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Source

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Identifiers

PMID: 23919265
DOI: 10.1186/1750-1172-8-117
PMCID: PMC3751094

Genes

RYR1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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