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Article

Evaluation of cardiac phenotype in horses with type 1 polysaccharide storage myopathy.

Journal of veterinary internal medicine - 1 Jan 2000

Naylor R J, Luis-Fuentes V, Livesey L, Mobley C B, Henke N, Brock K, Fernandez-Fuente M, Piercy R J

Abstract excerpt

BACKGROUND: Type 1 polysaccharide storage myopathy (PSSM1), an equine glycogen storage disorder caused by a gain of function mutation (R309H) in the gene encoding glycogen synthase (GYS1), is associated with the accumulation of amylase-resistant alpha-crystalline polysaccharide inclusions within skeletal muscle. Several glycogenoses in humans have a cardiac phenotype, and reports exist of horses with PSSM and...

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Source

Identifiers

PMID: 22978303
DOI: 10.1111/j.1939-1676.2012.00988.x

Genes

GYS1

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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Evaluation of cardiac phenotype in horses with type 1 polysaccharide storage myopathy.PMID 22978303Read ↗

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