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Episodes are intermittent and vary within and between affected horses and across breeds. The aetiopathogenesis is often unclear; there might be multiple causes. Poor phenotypic characterisation hinders genetic and other disease analyses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>The aim of this study was to characterise phenotypic patterns across exercise\u2010associated myopathies in horses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study design<\/jats:title>\n                    <jats:p>Historical cross\u2010sectional study, with subsequent masked case\u2013control validation study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Historical clinical and histological features from muscle samples (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u2009109) were used for\n                      <jats:italic>k<\/jats:italic>\n                      \u2010means clustering and validated using principal components analysis and hierarchical clustering. For further validation, a blinded histological study (69 horses) was conducted comparing two phenotypic groups with selected controls and horses with histopathological features characterised by myofibrillar disruption.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two distinct broad phenotypes: a non\u2010classic exercise\u2010associated myopathy syndrome (\n                      <jats:styled-content style=\"fixed-case\">EAMS<\/jats:styled-content>\n                      ) subtype was associated with practitioner\u2010described signs of apparent muscle pain (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), reluctance to move (10.85,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001), abnormal gait (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001), ataxia (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001) and paresis (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001); while a non\u2010specific classic\n                      <jats:styled-content style=\"fixed-case\">RER<\/jats:styled-content>\n                      subtype was not uniquely associated with any particular variables. No histological differences were identified between subtypes in the validation study, and no identifying histopathological features for other equine myopathies identified in either subtype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main limitations<\/jats:title>\n                    <jats:p>Lack of an independent validation population; small sample size of smaller identified subtypes; lack of positive control myofibrillar myopathy cases; case descriptions derived from multiple independent and unblinded practitioners.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This is the first study using computational clustering methods to identify phenotypic patterns in equine exercise\u2010associated myopathies, and suggests that differences in patterns of presenting clinical signs support multiple disease subtypes, with\n                      <jats:styled-content style=\"fixed-case\">EAMS<\/jats:styled-content>\n                      a novel subtype not previously described. Routine muscle histopathology was not helpful in sub\u2010categorising the phenotypes in our population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/evj.14128","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T03:39:20Z","timestamp":1720150760000},"page":"347-361","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterisation of phenotypic patterns in equine exercise\u2010associated myopathies"],"prefix":"10.1111","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7693-5839","authenticated-orcid":false,"given":"Victoria","family":"Lindsay\u2010McGee","sequence":"first","affiliation":[{"name":"Department of Clinical Sciences and Services Royal Veterinary College  London 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