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Gene Review

PYGM  -  phosphorylase, glycogen, muscle

Bos taurus

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Disease relevance of PYGM


High impact information on PYGM


Biological context of PYGM


Associations of PYGM with chemical compounds

  • Experimentally induced GSD-like conditions have been described in the rat (Acarbose-induced GSD II-like conditions, iodoacetate-induced symptoms of myophosphorylase (GSD V) and myophosphofructokinase (GSD VII) deficiency) and the chicken (ochratoxin A-induced symptoms of cyclic AMP-dependent protein kinase deficiency) [8].


  1. Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. Tsujino, S., Shanske, S., Valberg, S.J., Cardinet, G.H., Smith, B.P., DiMauro, S. Neuromuscul. Disord. (1996) [Pubmed]
  2. Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle. Angelos, S., Valberg, S.J., Smith, B.P., McQuarrie, P.S., Shanske, S., Tsujino, S., DiMauro, S., Cardinet, G.H. Muscle Nerve (1995) [Pubmed]
  3. Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing. Johnstone, A.C., McSporran, K.D., Kenny, J.E., Anderson, I.L., Macpherson, G.R., Jolly, R.D. New Zealand veterinary journal. (2004) [Pubmed]
  4. Internal restriction sites: quality assurance aids in genotyping. O'Rourke, B.A., Dennis, J.A., Healy, P.J. J. Vet. Diagn. Invest. (2006) [Pubmed]
  5. Deletion of one of the duplicated Hsp70 genes causes hereditary myopathy of diaphragmatic muscles in Holstein-Friesian cattle. Sugimoto, M., Furuoka, H., Sugimoto, Y. Anim. Genet. (2003) [Pubmed]
  6. Genetic test for myophosphorylase deficiency in Charolais cattle. Bilstrom, J.A., Valberg, S.J., Bernoco, D., Mickelson, J.R. Am. J. Vet. Res. (1998) [Pubmed]
  7. A direct StyI polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test for the myophosphorylase mutation in cattle. Soethout, E.C., Verkaar, E.L., Jansen, G.H., Müller, K.E., Lenstra, J.A. Journal of veterinary medicine. A, Physiology, pathology, clinical medicine. (2002) [Pubmed]
  8. Glycogen storage diseases in animals and their potential value as models of human disease. Walvoort, H.C. J. Inherit. Metab. Dis. (1983) [Pubmed]
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