OMIA:001158-9796 : Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis in Equus caballus (horse)

In other species: dog , pig

Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611556 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal incomplete dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: Disintegration of muscle fibres, with consequent excretion of myoglobin in the urine.

Species-specific name: Equine rhabdomyolysis syndrome; Polysaccharide storage myopathy; Tying-up

Species-specific symbol: PSSM1

Species-specific description: Valber et al. (1996) identified a polysaccharide storage myopathy (a glycogen storage disorder) associated with exertional rhabdomyolysis in Quarter-horse related breeds.

History: Horses with clinical signs similar to this disorder were first reported by Carlstrom (1932). The disorder was first recognised as a skeletal muscle glycogenosis by Valberg et al. (1992).

Inheritance: The disorder is definitely familial, and there are suggestions of autosomal recessive inheritance. However, the published data are inconclusive on this point (Valberg et al., 1996). Dranchak et al. (2005) performed a segregation analysis that excluded all forms of single-locus inheritance other than autosomal dominant.

Mapping: By conducting a genome scan on 48 related affected and 48 unrelated normal Quarter Horses, each genotyped with 105 microsatellites spread across all chromosomes, McCue et al. (2008) mapped this disorder to the vicinity of microsatellite NVEQ018 on chromosome ECA10p. Genotyping the same and additional horses with additional ECA10p microsatellites narrowed the location corresponding to a 3 Mb region of human chromosome HSA19 from 51.9 Mb to 54.6 Mb.

Molecular basis: Noting that the only functional comparative gene in the candidate region of HSA19 was GYS1, McCue et al. (2008) sequenced this gene in a likely homozygous affected horse and a control horse, discovering a missense mutation (c.?G>A; p.Arg309His) whose segregation in other affected and normal horses was consistent with causality. Interestingly, McCue et al. (2008) presented evidence that this is a gain-of-function mutation: "it is more likely that the glycogen accumulation in PSSM horse muscle is due to the Arg309His mutation and results from enhanced activity and/or poor regulation of the mutant enzyme".

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: As summarised by McCue et al. (2008): "The phenotypic expression of PSSM ranges from muscle atrophy and progressive weakness in Draft horse breeds to muscle soreness and gait abnormalities in Warmblood breeds, and acute exertional rhabdomyolysis in Quarter Horses. The severity of clinical signs in PSSM ranges from muscle cramping and stretching out . . . to severe muscle pain and myoglobinuria and occasionally the complete inability to rise".

Pathology: Widespread presence of subsarcolemmal vacuoles and PAS-positive inclusions (Valberg et al., 1996).

Prevalence: As reported by McCue et al. (2008), "The His309 allele was found in either heterozygous or homozygous form in 356 horses from 15 different breeds including Quarter Horses, Paint horses, Appaloosa horses, 5 Draft horse breeds, 3 Warmblood breeds, the Morgan, Mustang, Rocky Mountain Horse breeds, as well as mixed breed horses and Warmblood horses of unspecified breed." Its frequency ranged "from 0.035 to 0.350 in different breeds". The presence of this allele in so many breeds suggests ancient origins. McCue et al. (2008) estimated its mean age at 159 generations, which means that "this mutation likely originated between 1200 to 1500 years ago . . . , prior to the separation of the modern breeds known today". McCoy et al. (2013) reported evidence that the 309His "mutation underwent historical selection in the Belgian [because "Under historical conditions of daily work and limited feed, excess muscle glycogen may have been advantageous"], but not in the Quarter Horse".

Breeds: American Paint (Horse) (VBO_0000897), Haflinger (Horse) (VBO_0000978), Noric (Horse) (VBO_0001030), Quarter Horse (Horse) (VBO_0001057).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GYS1 glycogen synthase 1 (muscle) Equus caballus 10 NC_009153.3 (19209581..19195200) GYS1 Homologene, Ensembl , NCBI gene

Variants

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
163 American Paint (Horse) Appaloosa (Horse) Quarter Horse (Horse) Polysaccharide storage myopathy/Exertional rhabdomyolysis GYS1 missense Naturally occurring variant EquCab3.0 10 g.19203501C>T c.926G>A p.(R309H) ENSECAT00000023453.3:c.926G>A ENSECAP00000019426.2:p.Arg309His rs1150416011 rs1150416011 2008 18358695 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001158-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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 Valberg, S.J., Clancey, N.P., Salinger, A., Waldridge, B., Tan, J.Y., Barton, M.H. :
Pseudohyperkalemia in horses with rhabdomyolysis reported by an enzymatic chemistry analyzer. J Am Vet Med Assoc 262:1-5, 2024. Pubmed reference: 38103385. DOI: 10.2460/javma.23.06.0348.
2022 Aleman, M., Scalco, R., Malvick, J., Grahn, R.A., True, A., Bellone, R.R. :
Prevalence of genetic mutations in horses with muscle disease from a neuromuscular disease laboratory. J Equine Vet Sci 118:104129, 2022. Pubmed reference: 36150530. DOI: 10.1016/j.jevs.2022.104129.
2021 Aldrich, K., Velez-Irizarry, D., Fenger, C., Schott, M., Valberg, S.J. :
Pathways of calcium regulation, electron transport, and mitochondrial protein translation are molecular signatures of susceptibility to recurrent exertional rhabdomyolysis in Thoroughbred racehorses. PLoS One 16:e0244556, 2021. Pubmed reference: 33566847. DOI: 10.1371/journal.pone.0244556.
Zsoldos, R.R., Khayatzadeh, N., Soelkner, J., Schroeder, U., Hahn, C., Licka, T.F. :
Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy. J Anim Physiol Anim Nutr (Berl) , 2021. Pubmed reference: 33609063. DOI: 10.1111/jpn.13504.
2019 Valberg, S.J., Soave, K., Williams, Z.J., Perumbakkam, S., Schott, M., Finno, C.J., Petersen, J.L., Fenger, C., Autry, J.M., Thomas, D.D. :
Coding sequences of sarcoplasmic reticulum calcium ATPase regulatory peptides and expression of calcium regulatory genes in recurrent exertional rhabdomyolysis. J Vet Intern Med , 2019. Pubmed reference: 30720217. DOI: 10.1111/jvim.15425.
2018 Tosi, I., Art, T., Cassart, D., Farnir, F., Ceusters, J., Serteyn, D., Lemieux, H., Votion, D.M. :
Altered mitochondrial oxidative phosphorylation capacity in horses suffering from polysaccharide storage myopathy. J Bioenerg Biomembr 50:379-390, 2018. Pubmed reference: 30143916. DOI: 10.1007/s10863-018-9768-6.
2017 Druml, T., Grilz-Seger, G., Neuditschko, M., Brem, G. :
Association between population structure and allele frequencies of the glycogen synthase 1 mutation in the Austrian Noriker draft horse. Anim Genet 48:108-112, 2017. Pubmed reference: 27476720. DOI: 10.1111/age.12481.
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.
2016 Maile, C.A., Hingst, J.R., Mahalingan, K.K., O'Reilly, A.O., Cleasby, M.E., Mickelson, J.R., McCue, M.E., Anderson, S.M., Hurley, T.D., Wojtaszewski, J.F., Piercy, R.J. :
A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. Biochim Biophys Acta , 2016. Pubmed reference: 27592162. DOI: 10.1016/j.bbagen.2016.08.021.
McKenzie, E.C., Eyrich, L.V., Payton, M.E., Valberg, S.J. :
Clinical, histopathological and metabolic responses following exercise in Arabian horses with a history of exertional rhabdomyolysis. Vet J 216:196-201, 2016. Pubmed reference: 27687952. DOI: 10.1016/j.tvjl.2016.08.011.
Valberg, S.J., McKenzie, E.C., Eyrich, L.V., Shivers, J., Barnes, N.E., Finno, C.J. :
Suspected myofibrillar myopathy in Arabian horses with a history of exertional rhabdomyolysis. Equine Vet J 48:548-56, 2016. Pubmed reference: 26234161. DOI: 10.1111/evj.12493.
2014 Wilberger, M.S., McKenzie, E.C., Payton, M.E., Rigas, J.D., Valberg, S.J. :
Prevalence of exertional rhabdomyolysis in endurance horses in the Pacific Northwestern United States. Equine Vet J , 2014. Pubmed reference: 24579562. DOI: 10.1111/evj.12255.
2013 McCoy, A.M., Schaefer, R., Petersen, J.L., Morrell, P.L., Slamka, M.A., Mickelson, J.R., Valberg, S.J., McCue, M.E. :
Evidence of Positive Selection for a Glycogen Synthase (GYS1) Mutation in Domestic Horse Populations. J Hered , 2013. Pubmed reference: 24215078. DOI: 10.1093/jhered/est075.
2012 Barrey, E., Jayr, L., Mucher, E., Gospodnetic, S., Joly, F., Benech, P., Alibert, O., Gidrol, X., Mata, X., Vaiman, A., Guérin, G. :
Transcriptome analysis of muscle in horses suffering from recurrent exertional rhabdomyolysis revealed energetic pathway alterations and disruption in the cytosolic calcium regulation. Anim Genet 43:271-81, 2012. Pubmed reference: 22486498. DOI: 10.1111/j.1365-2052.2011.02246.x.
Fritz, K.L., McCue, M.E., Valberg, S.J., Rendahl, A.K., Mickelson, J.R. :
Genetic mapping of recurrent exertional rhabdomyolysis in a population of North American Thoroughbreds. Anim Genet 43:730-8, 2012. Pubmed reference: 22497487. DOI: 10.1111/j.1365-2052.2012.02351.x.
Naylor, R.J., Luis-Fuentes, V., Livesey, L., Mobley, C.B., Henke, N., Brock, K., Fernandez-Fuente, M., Piercy, R.J. :
Evaluation of cardiac phenotype in horses with type 1 polysaccharide storage myopathy. J Vet Intern Med 26:1464-9, 2012. Pubmed reference: 22978303. DOI: 10.1111/j.1939-1676.2012.00988.x.
Naylor, R.J., Livesey, L., Schumacher, J., Henke, N., Massey, C., Brock, K.V., Fernandez-Fuente, M., Piercy, R.J. :
Allele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1). PLoS One 7:e42317, 2012. Pubmed reference: 22860112. DOI: 10.1371/journal.pone.0042317.
Roe, W., Spraker, T.R. :
Capture-related myopathy in marine mammals and exertional rhabdomyolysis in horses: a possible link? Vet J 193:10-1, 2012. Pubmed reference: 22513298. DOI: 10.1016/j.tvjl.2012.03.012.
2011 Johlig, L., Valberg, SJ., Mickelson, JR., Klukowska, J., Reusser, HR., Straub, R., Gerber, V. :
Epidemiological and genetic study of exertional rhabdomyolysis in a Warmblood horse family in Switzerland. Equine Vet J 43:240-5, 2011. Pubmed reference: 21592222. DOI: 10.1111/j.2042-3306.2010.00161.x.
Schwarz, B., Ertl, R., Zimmer, S., Netzmann, Y., Klein, D., Schwendenwein, I., Hoven, R.V. :
Estimated prevalence of the GYS-1 mutation in healthy Austrian Haflingers. Vet Rec 169:583, 2011. Pubmed reference: 21949056. DOI: 10.1136/vr.d5438.
2010 Baird, JD., Valberg, SJ., Anderson, SM., McCue, ME., Mickelson, JR. :
Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds. Vet Rec 167:781-4, 2010. Pubmed reference: 21262610. DOI: 10.1136/vr.c3447.
Barrey, E., Bonnamy, B., Barrey, E.J., Mata, X., Chaffaux, S., Guerin, G. :
Muscular microRNA expressions in healthy and myopathic horses suffering from polysaccharide storage myopathy or recurrent exertional rhabdomyolysis. Equine Vet J Suppl :303-10, 2010. Pubmed reference: 21059022. DOI: 10.1111/j.2042-3306.2010.00267.x.
Isgren, CM., Upjohn, MM., Fernandez-Fuente, M., Massey, C., Pollott, G., Verheyen, KL., Piercy, RJ. :
Epidemiology of exertional rhabdomyolysis susceptibility in standardbred horses reveals associated risk factors and underlying enhanced performance. PLoS One 5:e11594, 2010. Pubmed reference: 20644724. DOI: 10.1371/journal.pone.0011594.
McCue, M.E., Anderson, S.M., Valberg, S.J., Piercy, R.J., Barakzai, S.Z., Binns, M.M., Distl, O., Penedo, M.C., Wagner, M.L., Mickelson, J.R. :
Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds. Anim Genet 41 Suppl 2:145-9, 2010. Pubmed reference: 21070288. DOI: 10.1111/j.1365-2052.2010.02124.x.
Tozaki, T., Hirota, K., Sugita, S., Ishida, N., Miyake, T., Oki, H., Hasegawa, T. :
A genome-wide scan for tying-up syndrome in Japanese Thoroughbreds. Anim Genet 41 Suppl 2:80-6, 2010. Pubmed reference: 21070280. DOI: 10.1111/j.1365-2052.2010.02112.x.
2009 Herszberg, B., McCue, M.E., Larcher, T., Mata, X., Vaiman, A., Chaffaux, S., Chérel, Y., Valberg, S.J., Mickelson, J.R., Guérin, G. :
A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses. Anim Genet 40:94-6, 2009. Pubmed reference: 18822097. DOI: 10.1111/j.1365-2052.2008.01778.x.
McCue, M.E., Armién, 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.
McCue, ME., Valberg, SJ., Jackson, M., Borgia, L., Lucio, M., Mickelson, JR. :
Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation. Neuromuscul Disord 19:37-43, 2009. Pubmed reference: 19056269. DOI: 10.1016/j.nmd.2008.10.001.
Stanley, RL., McCue, ME., Valberg, SJ., Mickelson, JR., Mayhew, IG., McGowan, C., Hahn, CN., Patterson-Kane, JC., Piercy, RJ. :
A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds. Equine Vet J 41:597-601, 2009. Pubmed reference: 19803057.
Tryon, RC., Penedo, MC., McCue, ME., Valberg, SJ., Mickelson, JR., Famula, TR., Wagner, ML., Jackson, M., Hamilton, MJ., Nooteboom, S., Bannasch, DL. :
Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J Am Vet Med Assoc 234:120-5, 2009. Pubmed reference: 19119976. DOI: 10.2460/javma.234.1.120.
2008 Firshman, A.M., Valberg, S.J., Baird, J.D., Hunt, L., DiMauro, S. :
Insulin sensitivity in Belgian horses with polysaccharide storage myopathy. Am J Vet Res 69:818-23, 2008. Pubmed reference: 18518664. DOI: 10.2460/ajvr.69.6.818.
Larcher, T., Herszberg, B., Molon-Noblot, S., Guigand, L., Chaffaux, S., Guerin, G., Cherel, Y. :
Polysaccharide storage myopathy in Cob Normand draft horses. Vet Pathol 45:154-8, 2008. Pubmed reference: 18424827. DOI: 10.1354/vp.45-2-154.
McCue, ME., Valberg, SJ., Miller, MB., Wade, C., Dimauro, S., Akman, HO., Mickelson, JR. :
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 91:458-66, 2008. Pubmed reference: 18358695. DOI: 10.1016/j.ygeno.2008.01.011.
McCue, ME., Valberg, SJ., Lucio, M., Mickelson, JR. :
Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy. J Vet Intern Med 22:1228-33, 2008. Pubmed reference: 18691366. DOI: 10.1111/j.1939-1676.2008.0167.x.
2007 Dranchak, P.K., Leiper, F.C., Valberg, S.J., Piercy, R.J., Carling, D., McCue, M.E., Mickelson, J.R. :
Biochemical and genetic evaluation of the role of AMP-activated protein kinase in polysaccharide storage myopathy in Quarter Horses. Am J Vet Res 68:1079-84, 2007. Pubmed reference: 17916014. DOI: 10.2460/ajvr.68.10.1079.
McCue, M.E., Valberg, S.J. :
Estimated prevalence of polysaccharide storage myopathy among overtly healthy Quarter Horses in the United States. J Am Vet Med Assoc 231:746-50, 2007. Pubmed reference: 17764437. DOI: 10.2460/javma.231.5.746.
2006 Dranchak, PK., Valberg, SJ., Onan, GW., Gallant, EM., Binns, MM., Swinburne, JE., Mickelson, JR. :
Exclusion of linkage of the RYR1, CACNA1S, and ATP2A1 genes to recurrent exertional rhabdomyolysis in Thoroughbreds. Am J Vet Res 67:1395-400, 2006. Pubmed reference: 16881852. DOI: 10.2460/ajvr.67.8.1395.
McCue, M.E., Ribeiro, W.P., Valberg, S.J. :
The prevalence of polysaccharide storage myopathy in Quarter Horses. J Vet Intern Med. 20:710, 2006.
McCue, ME., Ribeiro, WP., Valberg, SJ. :
Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders. Equine Vet J Suppl :340-4, 2006. Pubmed reference: 17402444.
2005 Annandale, EJ., Valberg, SJ., Essen-Gustavsson, B. :
Effects of submaximal exercise on adenine nucleotide concentrations in skeletal muscle fibers of horses with polysaccharide storage myopathy. Am J Vet Res 66:839-45, 2005. Pubmed reference: 15934611.
Dranchak, PK., Valberg, SJ., Onan, GW., Gallant, EM., MacLeay, JM., McKenzie, EC., De La Corte, FD., Ekenstedt, K., Mickelson, JR. :
Inheritance of recurrent exertional rhabdomyolysis in thoroughbreds. J Am Vet Med Assoc 227:762-7, 2005. Pubmed reference: 16178398.
Firshman, A.M., Baird, J.D., Valberg, S.J. :
Prevalences and clinical signs of polysaccharide storage myopathy and shivers in Belgian draft horses. J Am Vet Med Assoc 227:1958-64, 2005. Pubmed reference: 16379634. DOI: 10.2460/javma.2005.227.1958.
Hahn, C. :
Equine polysaccharide storage myopathy. Vet Rec 156:523, 2005. Pubmed reference: 15828733.
McDiarmid, A. :
Possible familial basis to equine polysaccharide storage myopathy. Vet Rec 156:95-6, 2005. Pubmed reference: 15765906.
Oki, H., Miyake, T., Hasegawa, T., Sasaki, Y. :
Estimation of heritability for Tying-up syndrome in the Thoroughbred racehorse by Gibbs sampling. J Anim Breed Genet 122:289-93, 2005. Pubmed reference: 16191036. DOI: 10.1111/j.1439-0388.2005.00539.x.
Upjohn, MM., Archer, RM., Christley, RM., McGowan, CM. :
Incidence and risk factors associated with exertional rhabdomyolysis syndrome in National Hunt racehorses in Great Britain. Vet Rec 156:763-6, 2005. Pubmed reference: 15951498.
Valentine, B.A., Cooper, B.J. :
Incidence of polysaccharide storage myopathy: necropsy study of 225 horses. Vet Pathol 42:823-7, 2005. Pubmed reference: 16301580. DOI: 10.1354/vp.42-6-823.
2004 Annandale, EJ., Valberg, SJ., Mickelson, JR., Seaquist, ER. :
Insulin sensitivity and skeletal muscle glucose transport in horses with equine polysaccharide storage myopathy. Neuromuscul Disord 14:666-74, 2004. Pubmed reference: 15351424. DOI: 10.1016/j.nmd.2004.05.007.
Cole, FL., Mellor, DJ., Hodgson, DR., Reid, SW. :
Prevalence and demographic characteristics of exertional rhabdomyolysis in horses in Australia. Vet Rec 155:625-30, 2004. Pubmed reference: 15573784.
Ribeiro, W.P., Valberg, S.J., Pagan, J.D., Gustavsson, B.E. :
The effect of varying dietary starch and fat content on serum creatine kinase activity and substrate availability in equine polysaccharide storage myopathy. J Vet Intern Med 18:887-94, 2004. Pubmed reference: 15638274.
2003 Firshman, A.M., Valberg, S.J., Bender, J.B., Finno, C.J. :
Epidemiologic characteristics and management of polysaccharide storage myopathy in Quarter Horses. Am J Vet Res 64:1319-27, 2003. Pubmed reference: 14596472.
McGowan, C.M., Menzies-Gow, N.J., McDiarmid, A.M., Patterson-Kane, J.C. :
Four cases of equine polysaccharide storage myopathy in the United Kingdom Veterinary Record 152:109-12, 2003. Pubmed reference: 12572940.
2002 De la Corte, F.D., Valberg, S.J., MacLeay, J.M., Mickelson, J.R. :
Developmental onset of polysaccharide storage myopathy in 4 quarter horse foals (vol 16, pg 581, 2002) Journal of Veterinary Internal Medicine 16:748, 2002.
De La Corte, F.D., Valberg, S.J., MacLeay, J.M., Mickelson, J.R. :
Developmental onset of polysaccharide storage myopathy in 4 quarter horse foals Journal of Veterinary Internal Medicine 16:581-587, 2002. Pubmed reference: 12322710.
Knoepfli, A.B. :
Exertional rhabdomyolysis in a 4-year-old standardbred filly Canadian Veterinary Journal - Revue Veterinaire Canadienne 43:293-295, 2002.
Lentz, L.R., Valberg, S.J., Herold, L.V., Onan, G.W., Mickelson, J.R., Gallant, E.M. :
Myoplasmic calcium regulation in myotubes from horses with recurrent exertional rhabdomyolysis American Journal of Veterinary Research 63:1724-1731, 2002. Pubmed reference: 12492289.
McGowan, C.M., Posner, R.E., Christley, R.M. :
Incidence of exertional rhabdomyolysis in polo horses in the USA and the United Kingdom in the 1999/2000 season Veterinary Record 150:535-537, 2002. Pubmed reference: 12019532.
McGowan, C.M., Fordham, T., Christley, R.M. :
Incidence and risk factors for exertional rhabdomyolysis in thoroughbred racehorses in the United Kingdom Veterinary Record 151:623-626, 2002. Pubmed reference: 12479297.
McKenzie, E.C., Valberg, S.J., Godden, S.M., Pagan, J.D., Carlson, G.P., MacLeay, J.M., DeLaCorte, F.D. :
Plasma and urine electrolyte and mineral concentrations in Thoroughbred horses with recurrent exertional rhabdomyolysis after consumption of diets varying in cation-anion balance American Journal of Veterinary Research 63:1053-1060, 2002. Pubmed reference: 12118668.
2001 Mlekoday, J.A., Mickelson, J.R., Valberg, S.J., Horton, J.H., Gallant, E.M., Thompson, L.V. :
Calcium sensitivity of force production and myofibrillar ATPase activity in muscles from Thoroughbreds with recurrent exertional rhabdomyolysis American Journal of Veterinary Research 62:1647-1652, 2001. Pubmed reference: 11592334.
Valentine, B.A., Habecker, P.L., Patterson, J.S., Njaa, B.L., Shapiro, J., Holshuh, H.J., Bildfell, R.J., Bird, K.E. :
Incidence of polysaccharide storage myopathy in draft horse-related breeds: a necropsy study of 37 horses and a mule. J Vet Diagn Invest 13:63-8, 2001. Pubmed reference: 11243365.
2000 Byrne, E., Cohen, N., Jones, S.L., Zimmel, D.N., Valberg, S. :
Rhabdomyolysis in two foals with polysaccharide storage myopathy Compendium on Continuing Education for the Practicing Veterinarian 22:503-+, 2000.
Carmichael, K.P. :
Diagnostic features of polysaccharide storage myopathy Compendium on Continuing Education for the Practicing Veterinarian 22:507-509, 2000.
De, la, Corte, F.D., Valberg, S.J. :
Treatment of polysaccharide storage myopathy Compendium on Continuing Education for the Practicing Veterinarian 22:782-+, 2000.
Lopez-Rivero, L. :
Exertional rhabdomyolysis Journal of Equine Veterinary Science 20:571, 2000.
MacLeay, J.M., Valberg, S.J., Pagan, J.D., Xue, J.L.L., De, la, Corte, F.D., Roberts, J. :
Effect of ration and exercise on plasma creatine kinase activity and lactate concentration in Thoroughbred horses with recurrent exertional rhabdomyolysis American Journal of Veterinary Research 61:1390-1395, 2000. Pubmed reference: 11108185.
Valentine, B.A., McDonough, S.P., Chang, Y.F., Vonderchek, A.J. :
Polysaccharide storage myopathy in Morgan, Arabian, and Standardbred related horses and Welsh-cross ponies. Vet Pathol 37:193-6, 2000. Pubmed reference: 10714651.
Ward, T.L., Valberg, S.J., Gallant, E.M., Mickelson, J.R. :
Calcium regulation by skeletal muscle membranes of horses with recurrent exertional rhabdomyolysis American Journal of Veterinary Research 61:242-247, 2000. Pubmed reference: 10714513.
1999 Bloom, B.A., Valentine, B.A., Gleed, R.D., Cable, C.S. :
Postanaesthetic recumbency in a Belgian filly with polysaccharide storage myopathy Veterinary Record 144:73-75, 1999. Pubmed reference: 10070692.
De La Corte, F.D., Valberg, S.J., Mickelson, J.R., Hower-Moritz, M. :
Blood glucose clearance after feeding and exercise in polysaccharide storage myopathy. Equine Vet J Suppl :324-8, 1999. Pubmed reference: 10659276.
De La Corte, F.D., Valberg, S.J., MacLeay, J.M., Williamson, S.E., Mickelson, J.R. :
Glucose uptake in horses with polysaccharide storage myopathy. Am J Vet Res 60:458-62, 1999. Pubmed reference: 10211689.
Lentz, L.R., Valberg, S.J., Mickelson, J.R., Gallant, E.M. :
In vitro contractile responses and contracture testing of skeletal muscle from Quarter Horses with exertional rhabdomyolysis American Journal of Veterinary Research 60:684-688, 1999. Pubmed reference: 10376892.
Lentz, L.R., Valberg, S.J., Balog, E.M., Mickelson, J.R., Gallant, E.M. :
Abnormal regulation of muscle contraction in horses with recurrent exertional rhabdomyolysis American Journal of Veterinary Research 60:992-999, 1999. Pubmed reference: 10451211.
MacLeay, J.M., Valberg, S.J., Sorum, S.A., Sorum, M.D., Kassube, T., Santschi, E.M., Mickelson, J.R., Geyer, C.J. :
Heritability of recurrent exertional rhabdomyolysis in Thoroughbred racehorses American Journal of Veterinary Research 60:250-256, 1999. Pubmed reference: 10048561.
MacLeay, J.M., Sorum, S.A., Valberg, S.J., Marsh, W.E., Sorum, M.D. :
Epidemiologic analysis of factors influencing exertional rhabdomyolysis in Thoroughbreds American Journal of Veterinary Research 60:1562-1566, 1999. Pubmed reference: 10622169.
Valberg, S.J., Macleay, J.M., Billstrom, J., Hower-Moritz, M.A., Mickelson, J.R. :
Skeletal muscle metabolic response to exercise in horses with 'tying-up' due to polysaccharide storage myopathy Equine Veterinary Journal 31:43-47, 1999. Pubmed reference: 9952328.
Valentine, B.A., de, Lahunta, A., Divers, T.J., Ducharme, N.G., Orcutt, R.S. :
Clinical and pathologic findings in two draft horses with progressive muscle atrophy, neuromuscular weakness, and abnormal gait characteristic of shivers syndrome Journal of the American Veterinary Medical Association 215:1661-+, 1999. Pubmed reference: 14567431.
Valentine, B.A. :
Polysaccharide storage myopathy in draft and draft-related horses and ponies Equine Practice 21:16-19, 1999.
1998 Hilsenroth, R. :
Exertional rhabdomyolysis Equine Practice 20:17, 1998.
Sprayberry, K.A., Madigan, J., Lecouteur, R.A., Valentine, B.A. :
Renal failure, laminitis, and colitis following severe rhabdomyolysis in a draft horse-cross with polysaccharide storage myopathy Canadian Veterinary Journal - Revue Veterinaire Canadienne 39:500-503, 1998.
Valberg, S.J., Townsend, D., Mickelson, J.R. :
Skeletal muscle glycolytic capacity and phosphofructokinase regulation in horses with polysaccharide storage myopathy American Journal of Veterinary Research 59:782-785, 1998. Pubmed reference: 9622752.
Valentine, B.A., Hintz, H.F., Freels, K.M., Reynolds, A.J., Thompson, K.N. :
Dietary control of exertional rhabdomyolysis in horses Journal of the American Veterinary Medical Association 212:1588 ff., 1998.
1997 Beech, J. :
Chronic exertional rhabdomyolysis Veterinary Clinics of North America - Equine Practice 13:145 ff., 1997.
Collinder, E., Lindholm, A., Rasmuson, M. :
Genetic markers in standardbred trotters susceptible to the rhabdomyolysis syndrome Equine Veterinary Journal 29:117-120, 1997. Pubmed reference: 9104560.
Valberg, S.J., Macleay, J.M., Mickelson, J.R. :
Exertional rhabdomyolysis and polysaccharide storage myopathy in horses Compendium on Continuing Education for the Practicing Veterinarian 19:1077 ff., 1997.
1996 Valberg, S.J., Geyer, C., Sorum, S.A., Cardinet, G.H. :
Familial basis of exertional rhabdomyolysis in quarter horse-related breeds American Journal of Veterinary Research 57:286-290, 1996. Pubmed reference: 8669756.
1993 Beech, J., Lindborg, S., Fletcher, J.E., Lizzo, F., Tripolitis, L., Braund, K. :
Caffeine Contractures, Twitch Characteristics and the Threshold for Ca-2+-Induced Ca-2+ Release in Skeletal Muscle from Horses with Chronic Intermittent Rhabdomyolysis Research in Veterinary Science 54:110-117, 1993. Pubmed reference: 8434138.
Valberg, S., Jonsson, L, Lindholm, A., Holmgren, N. :
Muscle histopathology and plasma aspartate aminotransferase, creatine kinase and myoglobin changes with exercise in horses with recurrent exertional rhabdomyolysis Equine Veterinary Journal 25:11-16, 1993. Pubmed reference: 8422878.
Valberg, S., Haggendal, J., Lindholm, A. :
Blood chemistry and skeletal muscle metabolic responses to exercise in horses with recurrent exertional rhabdomyolysis Equine Veterinary Journal 25:17-22, 1993. Pubmed reference: 8422879.
Valberg, S., Jonsson, L., Lindholm, A., Holmgren, N. :
Muscle Histopathology and Plasma Aspartate Aminotrausferase, Creatine Kinase and Myoglobin Changes with Exercise in Horses with Recurrent Exertional Rhabdomyolysis (Erratum for Vol 25, Pg 11, 1993) Equine Veterinary Journal 25:255, 1993.
1992 Valberg, S.J., Cardinet, G.H., Carlson, G.P., DiMauro, S. :
Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses. Neuromuscul Disord 2:351-9, 1992. Pubmed reference: 1284408.
1986 McEwen, S.A., Hulland, T.J. :
Histochemical and morphometric evaluation of skeletal muscle from horses with exertional rhabdomyolysis (tying-up). Vet Pathol 23:400-10, 1986. Pubmed reference: 2944276.
Robb, E.J., Kronfeld, D.S. :
Dietary sodium bicarbonate as a treatment for exertional rhabdomyolysis in a horse. J Am Vet Med Assoc 188:602-7, 1986. Pubmed reference: 3007412.
Wolf, A.M. :
Dietary sodium bicarbonate for exertional rhabdomyolysis. J Am Vet Med Assoc 188:1230, 1986. Pubmed reference: 3013819.
1982 Koterba, A., Carlson, G.P. :
Acid-base and electrolyte alterations in horses with exertional rhabdomyolysis. J Am Vet Med Assoc 180:303-6, 1982. Pubmed reference: 7056682.
1932 Carlstrom, B. :
Uber die atiologie und pathogenese der kreuzlahme des pferdes (Hemaglobinaemia paralytica) Scandinav Archiv. 62:1-62, 1932.

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