{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T13:16:16Z","timestamp":1787922976011,"version":"build-2784847793"},"reference-count":40,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T00:00:00Z","timestamp":1784937600000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Medicine &amp; Sci"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    A 6\u2010month\u2010old male Jack Russell Terrier presented with failure to thrive, lethargy, muscle atrophy, hypersalivation, and exercise intolerance. Similar signs were reported for the only other male puppy in the litter that died prematurely, whereas all the female puppies developed normally. An electromyography (EMG) test revealed abnormal electrical activity, such as complex repetitive discharges and fibrillation potentials. Cryosections of skeletal muscles revealed degenerative and regenerative myopathy with calcific deposits, consistent with a form of muscular dystrophy. Immunohistochemical testing demonstrated a lack of dystrophin, alongside upregulation of utrophin, and a subsequent reduction in dystrophin\u2010associated proteins, which is consistent with dystrophin\u2010deficient muscular dystrophy. Whole genome sequencing revealed a complex structural variant including a deletion of approximately 25.5\u00a0kb encompassing exons 8 and 9 of the\n                    <jats:italic>DMD<\/jats:italic>\n                    gene, which was absent in more than 1750 unrelated control genomes. This loss\u2010of\u2010function variant most likely accounts for the clinical presentation. Subsequent PCR testing revealed the presence of the wild\u2010type allele in both parents and a normal female littermate. Amplification of the mutant allele could not be achieved. The mutant allele was likely transmitted from the mother to the index case and the presumed affected male littermate. It remains unresolved whether the mutant allele was transmitted over several generations in the maternal line or arose by a\n                    <jats:italic>de novo<\/jats:italic>\n                    mutation event in the germline of the mother. In conclusion, we describe a partial deletion of the\n                    <jats:italic>DMD<\/jats:italic>\n                    gene in a Jack Russell Terrier with a Duchenne\u2010like muscular dystrophy phenotype due to non\u2010functional dystrophin.\n                  <\/jats:p>","DOI":"10.1002\/vms3.71110","type":"journal-article","created":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T07:36:37Z","timestamp":1784964997000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Dystrophin\u2010Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine\n                    <i>DMD<\/i>\n                    Gene"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8463-3063","authenticated-orcid":false,"given":"Emilie","family":"Royaux","sequence":"first","affiliation":[{"name":"Davies Veterinary Specialists  Hitchin UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3332-1359","authenticated-orcid":false,"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[{"name":"Comparative Neuromuscular Laboratory, Department of Pathology University of California San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9378-7903","authenticated-orcid":false,"given":"Michaela","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,25]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12266"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395\u2010020\u201000239\u20100"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.5326\/0380255"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11101175"},{"key":"e_1_2_10_6_1","first-page":"14","volume-title":"Muscle Biopsy: A Practical Approach","author":"Dubowitz V.","year":"2021"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.07.278"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021\u20109258(17)43189\u20109"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12834"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40575\u2010015\u20100019\u20104"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2003.09.002"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395\u2010017\u20100124\u2010z"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335\u2010011\u20109382\u2010y"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880111008"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.5.1544"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.53.38171"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.03.002"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395\u2010018\u20100162\u20101"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes16111369"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23272"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335\u2010016\u20109675\u20102"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010006\u20100212\u20101"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201017\u20100337"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0193372"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960\u20108966(99)00011\u20105"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13475"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888\u20107543(92)90210\u2010J"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cvsm.2004.05.020"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14081557"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.016"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.08.001"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.08.008"},{"issue":"1","key":"e_1_2_10_33_1","first-page":"51","article-title":"Independent Canine Models of Duchenne Muscular Dystrophy due to Intronic Insertions of Repetitive DNA","volume":"15","author":"Smith B. 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