{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T18:09:17Z","timestamp":1782497357341,"version":"3.54.5"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T00:00:00Z","timestamp":1663113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014840","name":"American Quarter Horse Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014840","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["L40 TR001136"],"award-info":[{"award-number":["L40 TR001136"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["beva.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Equine Veterinary Journal"],"published-print":{"date-parts":[[2023,7]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Both type 1 (PSSM1) and type 2 polysaccharide storage myopathy (PSSM2) are characterised by aggregates of abnormal polysaccharide in skeletal muscle. Whereas the genetic basis for PSSM1 is known (R309H\n GYS1<\/jats:italic>\n ), the cause of PSSM2 in Quarter Horses (PSSM2\u2010QH) is unknown and glycogen concentrations not defined.\n <\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n To characterise the histopathological and biochemical features of PSSM2\u2010QH and determine if an associated monogenic variant exists in genes known to cause glycogenosis.<\/jats:p>\n <\/jats:sec>\n \n Study design<\/jats:title>\n Retrospective case control.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Sixty\u2010four\n PSSM2\u2010QH<\/jats:styled-content>\n , 30\n PSSM1\u2010QH<\/jats:styled-content>\n and 185\n control\u2010QH<\/jats:styled-content>\n were identified from a biopsy repository and clinical data, histopathology scores (0\u20133), glycogen concentrations and selected glycolytic enzyme activities compared. Coding sequences of 12 genes associated with muscle glycogenoses were identified from whole genome sequences and compared between seven\n PSSM2\u2010QH<\/jats:styled-content>\n and five\n control\u2010QH<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Exertional rhabdomyolysis in PSSM2\u2010QH occurred predominantly in barrel racing and working cow\/roping performance types and improved with regular exercise and a low starch\/fat\u2010supplemented diet. Histopathological scores, including the amount of amylase\u2010resistant polysaccharide (PSSM2\u2010QH 1.4\u2009\u00b1\u20090.6, PSSM1\u2010QH 2.1\u2009\u00b1\u20090.3, control\u2010QH 0\u2009\u00b1\u20090,\n p<\/jats:italic>\n \u2009<\u20090.001), and glycogen concentrations (PSSM2\u2010QH 129\u2009\u00b1\u200962, PSSM1\u2010QH 175\u2009\u00b1\u20099, control\u2010QH 80\u2009\u00b1\u200927\u2009mmol\/kg,\n p<\/jats:italic>\n \u2009<\u20090.0001) were intermediate in PSSM2\u2010QH with significant differences among groups. In PSSM2\u2010QH, abnormal polysaccharide had a less filamentous ultrastructure than PSSM1\u2010QH and phosphorylase and phosphofructokinase activities were normal. Seventeen of 30 PSSM2\u2010QH with available pedigrees descended from one of three stallions within four generations. Of the 29 predicted high or moderate impact genetic variants identified in candidate genes, none were present in only PSSM2\u2010QH and absent in control\u2010QH.\n <\/jats:p>\n <\/jats:sec>\n \n Main limitations<\/jats:title>\n Analyses of PSSM2\u2010QH and PSSM1\u2010QH were performed on shipped samples, controls on frozen samples.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n PSSM2\u2010QH 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.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/evj.13876","type":"journal-article","created":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T01:19:33Z","timestamp":1660699173000},"page":"618-631","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5978-7010","authenticated-orcid":false,"given":"Stephanie J.","family":"Valberg","sequence":"first","affiliation":[{"name":"Large Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2852-2914","authenticated-orcid":false,"given":"Zo\u00eb J.","family":"Williams","sequence":"additional","affiliation":[{"name":"Large Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5924-0234","authenticated-orcid":false,"given":"Carrie J.","family":"Finno","sequence":"additional","affiliation":[{"name":"Department of Population Health and Reproduction, School of Veterinary Medicine University of California\u2010Davis Davis California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Schultz","sequence":"additional","affiliation":[{"name":"Large Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Velez\u2010Irizarry","sequence":"additional","affiliation":[{"name":"Large Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa L.","family":"Henry","sequence":"additional","affiliation":[{"name":"Large Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keri","family":"Gardner","sequence":"additional","affiliation":[{"name":"Large Animal Clinical Sciences, College of Veterinary Medicine Michigan State University East Lansing Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5438-8555","authenticated-orcid":false,"given":"Jessica L.","family":"Petersen","sequence":"additional","affiliation":[{"name":"Department of Animal Science University of Nebraska\u2010Lincoln Lincoln Nebraska USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(06)80006-4"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.37-2-193"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2008.01.011"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.08-VP-0177-M-FL"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.42-6-823"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tvjl.2016.08.011"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/evj.12493"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0203467"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/evj.12702"},{"key":"e_1_2_12_11_1","unstructured":"PaganJD ValbergSJ.Feeding performance horses with myopathies. 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