{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:13:22Z","timestamp":1772118802299,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T00:00:00Z","timestamp":1611705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Medicine &amp; Sci"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The University of Missouri (MU) has established a colony of dystrophin\u2010deficient dogs with a mixed breed background to mirror the variable pathologic effects of dystrophinopathies between persons of a given kindred to further the understanding of the genetic and molecular basis of the variable phenotype; thus to facilitate discovery of an effective therapeutic strategy. Herein we report the phenotype and genotype of a normal\u2010appearing 10\u2010month\u2010old colony female that died suddenly. At necropsy examination, there were reduced skeletal and laryngeal muscle volume and mild dilatation of the oesophagus. Microscopic findings consisted of extensive degeneration and regeneration of the axial skeletal, tongue, oesophageal, and laryngeal muscles that were characterized by considerable central nucleation, individual fibre mineralization and interstitial fibrosis. The myocardial findings were limited to infiltration of adipose cells in the interstitium. The female dog was a compound heterozygote with one X chromosome carrying a point mutation in intron 6 of the dystrophin gene and the other X chromosome carrying a repetitive element insertion in intron 13 of the dystrophin gene. Although the direct cause of death was uncertain, it might likely be due to sudden cardiac death as has been seen in Duchenne muscular dystrophy patients. This case demonstrated dystrophinopathy in female dogs that have no ameliorating normal X chromosome.<\/jats:p>","DOI":"10.1002\/vms3.433","type":"journal-article","created":{"date-parts":[[2021,1,27]],"date-time":"2021-01-27T08:36:54Z","timestamp":1611736614000},"page":"654-659","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1007-9360","authenticated-orcid":false,"given":"Jessica S.","family":"Fortin","sequence":"first","affiliation":[{"name":"Veterinary Medical Diagnostic Laboratory University of Missouri Columbia MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chady H.","family":"Hakim","sequence":"additional","affiliation":[{"name":"Department of Molecular Microbiology and Immunology School of Medicine University of Missouri Columbia MO USA"},{"name":"National Center for Advancing Translational Sciences NIH Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott","family":"Korte","sequence":"additional","affiliation":[{"name":"Office of Animal Resources University of Missouri Columbia MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. Nora","family":"Yang","sequence":"additional","affiliation":[{"name":"National Center for Advancing Translational Sciences NIH Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott D.","family":"Fitzgerald","sequence":"additional","affiliation":[{"name":"Veterinary Diagnostic Laboratory Michigan State University Lansing MI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayle C.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Veterinary Medical Diagnostic Laboratory University of Missouri Columbia MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce F.","family":"Smith","sequence":"additional","affiliation":[{"name":"Scott\u2010Ritchey Research Center College of Veterinary Medicine Auburn University Auburn AL USA"},{"name":"Department of Pathobiology College of Veterinary Medicine Auburn University Auburn AL USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4109-1132","authenticated-orcid":false,"given":"Dongsheng","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Molecular Microbiology and Immunology School of Medicine University of Missouri Columbia MO USA"},{"name":"Department of Neurology School of Medicine University of Missouri Columbia MO USA"},{"name":"Department of Biomedical Sciences College of Veterinary Medicine University of Missouri Columbia MO USA"},{"name":"Department of Biomedical Biological &amp; Chemical Engineering College of Engineering University of Missouri Columbia MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,27]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.5326\/0380255"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/334154a0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/RRB.S13463"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.284.6327.1423"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32808"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960\u20108966(00)00185\u20101"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010090314\u2010025003"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1507719112"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092\u20108674(87)90579\u20104"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960\u20108966(99)00018\u20108"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rvsc.2012.09.027"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395\u2010017\u20100124\u2010z"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335\u2010011\u20109382\u2010y"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880111008"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.018424"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300985810387070"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735\u20101097(10)80202\u20105"},{"issue":"3","key":"e_1_2_10_19_1","first-page":"351","article-title":"Changes in muscle metabolism are associated with phenotypic variability in golden retriever muscular dystrophy","volume":"90","author":"Nghiem P. 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