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Article

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

Genomics - 1 May 2008

McCue Molly E, Valberg Stephanie J, Miller Michael B, Wade Claire, DiMauro Salvatore, Akman Hasan O, Mickelson James R

Abstract excerpt

Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion. It is unlike glycogen storage diseases resulting from known defects in glycogenolysis, glycolysis, and glycogen synthesis that have been described in humans and domestic animals. A genome-wide association identified GYS1, encoding skeletal...

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Source

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Identifiers

PMID: 18358695
DOI: 10.1016/j.ygeno.2008.01.011
PMCID: PMC2430182

Genes

GYS1

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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