{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T03:24:03Z","timestamp":1770434643154,"version":"3.49.0"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,1,5]],"date-time":"2010-01-05T00:00:00Z","timestamp":1262649600000},"content-version":"vor","delay-in-days":188,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["beva.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Equine Veterinary Journal"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    <jats:italic>Reasons for performing study<\/jats:italic>\n                    : A glycogen synthase\n                    <jats:italic>(GYS1)<\/jats:italic>\n                    mutation has been described in horses with histopathological evidence of polysaccharide storage myopathy (PSSM) in the USA. It is unknown whether the same mutation is present in horses from the UK.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Objectives<\/jats:italic>\n                    : To determine whether the\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation occurs in UK horses with histopathological evidence of PSSM and exertional rhabdomyolysis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Hypothesis<\/jats:italic>\n                    : The R309H\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation is present in a variety of UK horse breeds and that the mutation is commonly associated with exertional rhabdomyolysis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Methods<\/jats:italic>\n                    : DNA was extracted from 47 muscle or blood samples from UK horses with histories of exertional rhabdomyolysis in which muscle biopsy diagnosis had been pursued. The proportions of\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation positive cases were compared among histopathologically defined groups. In addition, breeds that carried the\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation were identified from a total of 37\n                    <jats:italic>grade 2<\/jats:italic>\n                    (amylase\u2010resistant) PSSM cases.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Results<\/jats:italic>\n                    : Of 47 horses with exertional rhabdomyolysis in which a muscle biopsy diagnosis was pursued, 10 (21%) carried the\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation. The mutation was only found in horses with\n                    <jats:italic>grade 2<\/jats:italic>\n                    PSSM (i.e. not in horses with normal, idiopathic myopathy or\n                    <jats:italic>grade 1<\/jats:italic>\n                    PSSM biopsy samples). In total, the\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation was found in 24\/37 (65%) of\n                    <jats:italic>grade 2<\/jats:italic>\n                    PSSM cases. A variety of breeds, including Quarter Horse, Appaloosa, Warmblood, Connemara\u2010cross, Cob, Polo Pony and Thoroughbred cross carried the mutation.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions<\/jats:italic>\n                    : The\n                    <jats:italic>GYS1<\/jats:italic>\n                    mutation is an important cause of exertional rhabdomyolysis of UK horse breeds but does not account for all forms of PSSM.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Potential relevance<\/jats:italic>\n                    : Genotyping is recommended in cases of exertional rhabdomyolysis, prior to or in combination with, muscle biopsy. However a significant proportion of horses with histopathological evidence of PSSM and\/or exertional rhabdomyolysis have different diseases.\n                  <\/jats:p>","DOI":"10.2746\/042516409x407611","type":"journal-article","created":{"date-parts":[[2009,7,2]],"date-time":"2009-07-02T20:24:55Z","timestamp":1246566295000},"page":"597-601","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds"],"prefix":"10.1111","volume":"41","author":[{"given":"R. L.","family":"Stanley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. E.","family":"Mccue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. 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