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Article

Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation.

Neuromuscular disorders : NMD - 1 Jan 2009

McCue M E, Valberg S J, Jackson M, Borgia L, Lucio M, Mickelson J R

Abstract excerpt

In this study we examined a family of Quarter Horses with Polysaccharide Storage Myopathy (PSSM) with a dominant mutation in the skeletal muscle glycogen synthase (GYS1) gene. A subset of horses within this family had a more severe and occasionally fatal PSSM phenotype. The purpose of this study was to identify a modifying gene(s) for the severe clinical phenotype. A genetic association analysis was used to...

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Source

Identifiers

PMID: 19056269
DOI: 10.1016/j.nmd.2008.10.001

Genes

GYS1
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.

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