{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:18:06Z","timestamp":1763741886138,"version":"3.45.0"},"reference-count":16,"publisher":"American Animal Hospital Association","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    X-linked dystrophin-deficient muscular dystrophy is associated with a mutation of the\n                    <jats:italic>DYS<\/jats:italic>\n                    gene located on the X chromosome. To date, dystrophinopathy has been identified in 16 different dog breeds with 20 different variants confirmed. In this report, a 9 mo old male Australian cattle dog was evaluated for progressive generalized weakness and dysphagia beginning at 4 mo of age. A markedly elevated creatine kinase activity was noted on blood chemistry, and muscle biopsies confirmed a dystrophic phenotype. Dystrophin deficiency was identified by immunohistochemistry. In this report we identify dystrophin-deficient muscular dystrophy for the first time in a 9 mo old intact male Australian cattle dog. This finding expands the list of breeds confirmed with dystrophinopathy. Whole-genome sequencing is required to identify the causative mutation.\n                  <\/jats:p>","DOI":"10.5326\/jaaha-ms-7480","type":"journal-article","created":{"date-parts":[[2025,6,18]],"date-time":"2025-06-18T09:27:20Z","timestamp":1750238840000},"page":"107-110","source":"Crossref","is-referenced-by-count":0,"title":["Dystrophin-Deficient Muscular Dystrophy in an Australian Cattle Dog (Blue Heeler)"],"prefix":"10.5326","volume":"61","author":[{"given":"Nathan","family":"Bernier-Parker","sequence":"first","affiliation":[{"name":"From the Veterinary Neurological Center, Phoenix, Arizona (N.B.-P., T.W.M., L.B.S., L.L., K.E.K.); and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trevor W.","family":"Moore","sequence":"additional","affiliation":[{"name":"From the Veterinary Neurological Center, Phoenix, Arizona (N.B.-P., T.W.M., L.B.S., L.L., K.E.K.); and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura B.","family":"Stainback","sequence":"additional","affiliation":[{"name":"From the Veterinary Neurological Center, Phoenix, Arizona (N.B.-P., T.W.M., L.B.S., L.L., K.E.K.); and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydia","family":"Lovato","sequence":"additional","affiliation":[{"name":"From the Veterinary Neurological Center, Phoenix, Arizona (N.B.-P., T.W.M., L.B.S., L.L., K.E.K.); and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling T.","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California (L.T.G., G.D.S.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[{"name":"Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California (L.T.G., G.D.S.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim E.","family":"Knowles","sequence":"additional","affiliation":[{"name":"From the Veterinary Neurological Center, Phoenix, Arizona (N.B.-P., T.W.M., L.B.S., L.L., K.E.K.); and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3280","reference":[{"year":"1861","author":"Duchenne","key":"i1547-3317-61-4-107-b1","unstructured":"Duchenne\n              G.\n            \n          \u00a0Paraplegie hypertrophique de l\u2019enfance de cause cerebrale, II edn. Bailliere et Fils; 1861."},{"key":"i1547-3317-61-4-107-b2","series-title":"Cell","first-page":"919","article-title":"Dystrophin: The protein product of the Duchenne muscular dystrophy locus","volume":"51","author":"Hoffman","year":"1987","unstructured":"Hoffman\n              EP,\n            \n            \n              Brown\n              RH\n              Jr\n            , KunkelLM.\n          Dystrophin: The protein product of the Duchenne muscular dystrophy locus. 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Genomics2005;86(3):287\u201394."},{"issue":"4","key":"i1547-3317-61-4-107-b8","series-title":"J Vet Intern Med","first-page":"1149","article-title":"Australian cattle dogs with neuronal ceroid lipofuscinosis are homozygous for a CLN5 nonsense mutation previously identified in border collies","volume":"30","author":"Kolicheski","year":"2016","unstructured":"Kolicheski\n              A,\n            \n            \n              Johnson\n              GS,\n            \n            \n              O\u2019Brien\n              DP,\n            \n            \n          \n          Australian cattle dogs with neuronal ceroid lipofuscinosis are homozygous for a CLN5 nonsense mutation previously identified in border collies. J Vet Intern Med2016;30(4):1149\u201358."},{"issue":"12","key":"i1547-3317-61-4-107-b9","series-title":"Neuromusc Disord","first-page":"820","article-title":"Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle","volume":"20","author":"Guo","year":"2010","unstructured":"Guo\n              LT,\n            \n            \n              Moore\n              SA,\n            \n            \n              Forcales\n              S,\n            \n            \n          \n          Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle. 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J Biol Chem1984;259:3955\u201361."},{"issue":"5","key":"i1547-3317-61-4-107-b12","series-title":"Anim Genet.","first-page":"733","article-title":"Exonisation of an intronic L1 element in the dystrophin gene associated with X-linked muscular dystrophy in a border collie dog","volume":"55","author":"Van Poucke","year":"2024","unstructured":"Van Poucke\n              M,\n            \n            \n              Ledeganck\n              L,\n            \n            \n              Guo\n              LT,\n            \n            \n          \n          Exonisation of an intronic L1 element in the dystrophin gene associated with X-linked muscular dystrophy in a border collie dog. Anim Genet.2024;55(5):733\u201343."},{"issue":"6","key":"i1547-3317-61-4-107-b13","series-title":"J Am Anim Hosp Assoc","first-page":"292","article-title":"Dystrophin-deficient muscular dystrophy in two male juvenile Brittanys","volume":"58","author":"Stevens","year":"2022","unstructured":"Stevens\n              R,\n            \n            \n              Kanazono\n              S,\n            \n            \n              Petesch\n              S,\n            \n            \n              Guo\n              LT,\n            \n            \n              Shelton\n              GD.\n            \n          \n          Dystrophin-deficient muscular dystrophy in two male juvenile Brittanys. J Am Anim Hosp Assoc2022;58(6):292\u20136."},{"issue":"1","key":"i1547-3317-61-4-107-b14","series-title":"Vet Clin North Am Small Anim Pract","first-page":"103","article-title":"Muscular dystrophies and other inherited myopathies","volume":"32","author":"Shelton","year":"2002","unstructured":"Shelton\n              GD,\n            \n            \n              Engvall\n              E.\n            \n          \n          Muscular dystrophies and other inherited myopathies. 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PLoS One2018;13(2):e0193372."},{"issue":"3","key":"i1547-3317-61-4-107-b16","series-title":"Vet Clin Pathol","first-page":"278","article-title":"Routine and specialized laboratory testing for the diagnosis of neuromuscular diseases in dogs and cats","volume":"39","author":"Shelton","year":"2010","unstructured":"Shelton\n              GD.\n            \n          \n          Routine and specialized laboratory testing for the diagnosis of neuromuscular diseases in dogs and cats. Vet Clin Pathol2010;39(3):278\u201395."}],"container-title":["Journal of the American Animal Hospital Association"],"original-title":[],"link":[{"URL":"https:\/\/jaaha.kglmeridian.com\/view\/journals\/aaha\/61\/4\/article-p107.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/meridian.allenpress.com\/jaaha\/article-pdf\/61\/4\/107\/3524830\/i1547-3317-61-4-107.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/jaaha.kglmeridian.com\/downloadpdf\/journals\/aaha\/61\/4\/article-p107.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/jaaha.kglmeridian.com\/downloadpdf\/journals\/aaha\/61\/4\/article-p107.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T16:06:21Z","timestamp":1763741181000},"score":1,"resource":{"primary":{"URL":"https:\/\/jaaha.kglmeridian.com\/view\/journals\/aaha\/61\/4\/article-p107.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":16,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.5326\/jaaha-ms-7480","relation":{},"ISSN":["1547-3317","0587-2871"],"issn-type":[{"type":"electronic","value":"1547-3317"},{"type":"print","value":"0587-2871"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}