OMIA:001139-9913 : Glycogen storage disease V in Bos taurus (taurine cattle)

In other species: sheep

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 232600 (trait) , 608455 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1996

Cross-species summary: McArdle disease

Species-specific name: Myophosphorylase deficiency

Species-specific description: The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.

Inheritance: As reported by Angelos et al. (1995), six calves from a single Charolais herd were diagnosed after one of the calves was presented to the Veterinary Medical Teaching Hospital of the School of Veterinary Medicine at the University of California, Davis. The sire and dam of each of the six calves had a common ancestor. The data were consistent with autosomal recessive inheritance.
Batt et al. (2024) pedigre analysis of the Red Angus composite cattle identified a founder Red Angus sire.  

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Tsujino et al. (1996) showed that the disorder in these Charolais cattle is due to a missense mutation in codon 489 of the gene for myophosphorylase.
Batt et al. (2024): "A genome-wide association analysis utilizing SNP data from 6 affected [Red Angus cpmposite] calves and 715 herd mates, followed by whole-genome sequencing of 2 affected calves led to the identification of a variant in the gene PYGM (BTA29:g.42989581G > A). The variant, confirmed to be present in the skeletal muscle transcriptome, was predicted to produce a premature stop codon (p.Arg650*)."

Clinical features: In Charolais cattle a history of recumbency following forced exercise; severe rhabdmyolysis; dehydration; and electrolyte imbalance.
Batt et al. (2024) report the condition in a composite Simmental, Red Angus, Gelbvieh herd. Affected animals "displayed exercise intolerance during forced activity. In some cases, the calves collapsed and did not recover."

Pathology: Batt et al. (2024): "Glycogen concentrations were fluorometrically assayed as glucose residues demonstrating significantly elevated glycogen concentrations in affected [Red Angus composite] calves compared to cattle carrying the variant and to wild-type controls. The absence of the PYGM protein product in skeletal muscle was confirmed by immunohistochemistry and label-free quantitative proteomics analysis; muscle degeneration was confirmed in biopsy and necropsy samples. Elevated skeletal muscle glycogen persisted after harvest, resulting in a high pH and dark-cutting beef, which is negatively perceived by consumers and results in an economic loss to the industry. Carriers of the variant did not exhibit differences in meat quality or any measures of animal well-being."

Breeds: Charolais (Cattle) (VBO_0000177), Red Angus (Cattle) (VBO_0000350).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PYGM phosphorylase, glycogen, muscle Bos taurus 29 NC_037356.1 (42997404..42985604) PYGM Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
193 Charolais (Cattle) Glycogen storage disease V PYGM missense Naturally occurring variant ARS-UCD1.2 29 g.42991370G>A c.1468C>T p.(R490W) 1996 8845714 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446
1688 Red Angus (Cattle) Glycogen storage disease V PYGM nonsense (stop-gain) Naturally occurring variant ARS-UCD1.3 29 NC_037356.1:g.42989581G>A NM_175786.2 c.1948C>T NP_786980.1:p.(R650*) published as c.2257C>T in ARS-UCD1.2 2024 38678201

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001139-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Batt, M.C., Venzor, L.G., Gardner, K., Reith, R.R., Roberts, K.A., Herrera, N.J., Fuller, A.M., Sullivan, G.A., Mulliniks, J.T., Spangler, M.L., Valberg, S.J., Steffen, D.J., Petersen, J.L. :
An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle. BMC Genomics 25:417, 2024. Pubmed reference: 38678201. DOI: 10.1186/s12864-024-10330-1.
2020 Almodóvar-Payá, A., Villarreal-Salazar, M., de Luna, N., Nogales-Gadea, G., Real-Martínez, A., Andreu, A.L., Martín, M.A., Arenas, J., Lucia, A., Vissing, J., Krag, T., Pinós, T. :
Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci 21:9621, 2020. Pubmed reference: 33348688. DOI: 10.3390/ijms21249621.
2007 Cítek, J., Rehout, V., Vecerek, L., Hájková, J. :
Genotyping glycogen storage disease type II and type V in cattle reared in the Czech Republic. J Vet Med A Physiol Pathol Clin Med 54:257-9, 2007. Pubmed reference: 17523960. DOI: 10.1111/j.1439-0442.2007.00931.x.
2004 Johnstone, AC., McSporran, KD., Kenny, JE., Anderson, IL., Macpherson, GR., Jolly, RD. :
Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: confirmation by PCR-RFLP testing. N Z Vet J 52:404-8, 2004. Pubmed reference: 15768143. DOI: 10.1080/00480169.2004.36459.
2002 Soethout, EC., Verkaar, EL., Jansen, GH., Muller, KE., Lenstra, JA. :
A direct StyI polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test for the myophosphorylase mutation in cattle. J Vet Med A Physiol Pathol Clin Med 49:289-90, 2002. Pubmed reference: 12227470.
1998 Bilstrom, J.A., Valberg, S.J., Bernoco, D., Mickelson, J.R. :
Genetic test for myophosphorylase deficiency in Charolais cattle American Journal of Veterinary Research 59:267-270, 1998. Pubmed reference: 9522942.
1996 Tsujino, S., Shanske, S., Valberg, S.J., Cardinet, G.H., Smith, B.P., Dimauro, S. :
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 6:19-26, 1996. Pubmed reference: 8845714.
1995 Angelos, S., Valberg, S.J., Smith, B.P., Mcquarrie, P.S., Shanske, S., Tsujino, S., Dimauro, S., Cardinet, G.H. :
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle Muscle & Nerve 18:736-740, 1995. Pubmed reference: 7783763. DOI: 10.1002/mus.880180710.

Edit History

  • Created by Frank Nicholas on 12 May 2010
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 May 2012
  • Changed by Frank Nicholas on 31 Aug 2012
  • Changed by Frank Nicholas on 28 Sep 2015
  • Changed by Imke Tammen2 on 30 Apr 2024