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Article

A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses.

Animal genetics - 1 Feb 2009

Herszberg B, McCue M E, Larcher T, Mata X, Vaiman A, Chaffaux S, Chérel Y, Valberg S J, Mickelson J R, Guérin G

Abstract excerpt

Glycogen storage diseases or glycogenoses are inherited diseases caused by abnormalities of enzymes that regulate the synthesis or degradation of glycogen. Deleterious mutations in many genes of the glyco(geno)lytic or the glycogenesis pathways can potentially cause a glycogenosis, and currently mutations in fourteen different genes are known to cause animal or human glycogenoses, resulting in myopathies and/or...

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Source

Identifiers

PMID: 18822097
DOI: 10.1111/j.1365-2052.2008.01778.x

Genes

GYS1
GBE1

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses.PMID 18822097Read ↗

Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy.Semantic proximity Read ↗

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.Semantic proximity Read ↗

Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds.Semantic proximity Read ↗

A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds.Semantic proximity Read ↗

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

Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds.Semantic proximity Read ↗

Epidemiological and genetic study of exertional rhabdomyolysis in a Warmblood horse family in Switzerland.Semantic proximity Read ↗

Comparative skeletal muscle histopathologic and ultrastructural features in two forms of polysaccharide storage myopathy in horses.Semantic proximity Read ↗

Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse.Semantic proximity Read ↗

Allele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1).Semantic proximity Read ↗

Evidence of positive selection for a glycogen synthase (GYS1) mutation in domestic horse populations.Semantic proximity Read ↗

Gene expression profiling in equine polysaccharide storage myopathy revealed inflammation, glycogenesis inhibition, hypoxia and mitochondrial dysfunctions.Semantic proximity Read ↗

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