{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T15:18:52Z","timestamp":1778858332776,"version":"3.51.4"},"reference-count":92,"publisher":"Akademiai Kiado Zrt.","issue":"2","license":[{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["AVET"],"published-print":{"date-parts":[[2026,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    To investigate the pathophysiology, prevalence and severity of equine exertional rhabdomyolysis in a mountainous region of Transylvania, Romania, this study considered genetic and histological factors. We determined the occurrence and frequency of a mutation in the glycogen synthase gene 1 (GYS1), associated with equine polysaccharide storage myopathy type 1 (PSSM1), in two adjacent populations, one with a significantly high prevalence of the disease (high altitude villages, HV) and the other with a rare prevalence (valley villages, VV). We genotyped GYS1 in 41 animals (HV = 31, VV = 10) and found a significant difference in the appearance of GYS1-positive animals in the HV region. Histological lesions of animals (\n                    <jats:italic>n<\/jats:italic>\n                    = 6) with and without muscle disorders of the two populations were examined. We demonstrated a significant association between the number of rhabdomyolysis episodes and GYS1\u00a0mutation (\n                    <jats:italic>P<\/jats:italic>\n                    = 0.03) and positive amylase-resistant PAS staining (\n                    <jats:italic>P<\/jats:italic>\n                    = 0.01). Nevertheless, the\u00a0correlation between GYS1 mutation and PAS staining was weak (\n                    <jats:italic>P<\/jats:italic>\n                    = 0.06). These studies further confirm the versatile and complex nature of muscle disease in this region.\n                  <\/jats:p>","DOI":"10.1556\/004.2026.01199","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T12:47:46Z","timestamp":1772023666000},"page":"72-81","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["Genetic background of the Transylvanian endemic equine recurrent rhabdomyolysis"],"prefix":"10.1556","volume":"74","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0505-2809","authenticated-orcid":true,"given":"Csaba Attila","family":"K\u00f3sa","sequence":"first","affiliation":[{"name":"Veterinary Cabinet Bence Uz SRL, 11 K\u00f6zt\u00e1rsas\u00e1g Str, RO-535800, Szentegyh\u00e1za, Vlahita"},{"name":"Doctoral School of the University of Veterinary Medicine, 2 Istv\u00e1n Str, H-1078, Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ott\u00f3","family":"Szenci","sequence":"additional","affiliation":[{"name":"MTA-SZIE Large Animal Clinical Research Group and Clinic for Large Animals, H-2225 \u00dcll\u0151-D\u00f3ra major, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lea","family":"L\u00e9n\u00e1rt","sequence":"additional","affiliation":[{"name":"MTA-SZIE Large Animal Clinical Research Group and Clinic for Large Animals, H-2225 \u00dcll\u0151-D\u00f3ra major, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imre","family":"Biksi","sequence":"additional","affiliation":[{"name":"MTA-SZIE Large Animal Clinical Research Group and Clinic for Large Animals, H-2225 \u00dcll\u0151-D\u00f3ra major, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00f3bert","family":"Sz\u00e9p","sequence":"additional","affiliation":[{"name":"Faculty of Natural Sciences, Doctoral School of Chemistry, University of P\u00e9cs, Ifj\u00fas\u00e1g 6, H-7624, P\u00e9cs, Hungary"},{"name":"Department of Bioengineering, Faculty of Economics, Socio - Human Sciences and Engineering, Sapientia Hungarian University of Transylvania, Pia\u0163a Libert\u0103\u0163ii 1, RO-530104, Miercurea Ciuc, Romania"},{"name":"Institute for Research and Development for Hunting and Mountain Resources, Progresului 35B, RO-530240, Miercurea Ciuc, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Keresztesi","sequence":"additional","affiliation":[{"name":"Faculty of Natural Sciences, Doctoral School of Chemistry, University of P\u00e9cs, Ifj\u00fas\u00e1g 6, H-7624, P\u00e9cs, Hungary"},{"name":"Department of Bioengineering, Faculty of Economics, Socio - Human Sciences and Engineering, Sapientia Hungarian University of Transylvania, Pia\u0163a Libert\u0103\u0163ii 1, RO-530104, Miercurea Ciuc, Romania"},{"name":"Institute for Research and Development for Hunting and Mountain Resources, Progresului 35B, RO-530240, Miercurea Ciuc, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mircea","family":"Mircean","sequence":"additional","affiliation":[{"name":"Department of Anatomic Pathology, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 3-5 Calea Manastur, Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marian","family":"Taulescu","sequence":"additional","affiliation":[{"name":"Department of Anatomic Pathology, University of Agricultural Sciences and Veterinary Medicine Cluj-Napoca, 3-5 Calea Manastur, Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsolya","family":"Kutasi","sequence":"additional","affiliation":[{"name":"MTA-SZIE Large Animal Clinical Research Group and Clinic for Large Animals, H-2225 \u00dcll\u0151-D\u00f3ra major, Hungary"},{"name":"Department of Animal Breeding, Nutrition and Laboratory Animal Science, University of Veterinary Medicine Budapest, Istv\u00e1n utca 2, H-1078, Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"B1","series-title":"Neuromuscul. 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