OMIA:001537-9796 : Polysaccharide storage myopathy, type 2 in Equus caballus (horse)

Categories: Muscle phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: Type 2 PSS, PSSM2

Species-specific symbol: PSSM2

Molecular basis: Valberg et al. (2022; pubmed 36102343) concluded that this disorder in Quarter Horses "is a novel glycogen storage disorder that is not the result of a mutation in genes currently known to cause muscle glycogenoses in other species".

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001537-9796: 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 Durward-Akhurst, S.A., Marlowe, J.L., Schaefer, R.J., Springer, K., Grantham, B., Carey, W.K., Bellone, R.R., Mickelson, J.R., McCue, M.E. :
Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 14:8396, 2024. Pubmed reference: 38600096. DOI: 10.1038/s41598-024-57872-8.
2023 Valberg, S.J., Henry, M.L., Herrick, K.L., Velez-Irizarry, D., Finno, C.J., Petersen, J.L. :
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests. Equine Vet J 55:230-238, 2023. Pubmed reference: 35288976. DOI: 10.1111/evj.13574.
2022 Valberg, S.J., Williams, Z.J., Finno, C.J., Schultz, A., Velez-Irizarry, D., Henry, M.L., Gardner, K., Petersen, J.L. :
Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis. Equine Vet J 55:618-631, 2022. Pubmed reference: 36102343. DOI: 10.1111/evj.13876.
2018 Williams, Z.J., Bertels, M., Valberg, S.J. :
Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy. PLoS One 13:e0203467, 2018. Pubmed reference: 30183782. DOI: 10.1371/journal.pone.0203467.
2017 Lewis, S.S., Nicholson, A.M., Williams, Z.J., Valberg, S.J. :
Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy. Am J Vet Res 78:1305-1312, 2017. Pubmed reference: 29076373. DOI: 10.2460/ajvr.78.11.1305.
2009 McCue, M.E., ArmiƩn, A.G., Lucio, M., Mickelson, J.R., Valberg, S.J. :
Comparative skeletal muscle histopathologic and ultrastructural features in two forms of polysaccharide storage myopathy in horses. Vet Pathol 46:1281-91, 2009. Pubmed reference: 19605906. DOI: 10.1354/vp.08-VP-0177-M-FL.

Edit History

  • Created by Frank Nicholas on 01 Dec 2010
  • Changed by Frank Nicholas on 15 Sep 2018
  • Changed by Frank Nicholas on 24 Sep 2022
  • Changed by Imke Tammen2 on 18 Jan 2023