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Article

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.

Neuromuscular disorders : NMD - 1 Jan 1996

Tsujino S, Shanske S, Valberg S J, Cardinet G H, Smith B P, DiMauro S

Abstract excerpt

Genetic defects of myophosphorylase in humans cause a metabolic myopathy (McArdle's disease) characterized by exercise intolerance, cramps, and recurrent myoglobinuria. Recently, a breed of cattle with myophosphorylase deficiency has been identified: this is the first animal model of McArdle's disease. To define the molecular genetic error in the cattle, we cloned and sequenced the wild-type bovine...

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Identifiers

PMID: 8845714
DOI: 10.1016/0960-8966(95)00014-3

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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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