{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T23:08:03Z","timestamp":1784675283130,"version":"3.55.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":704,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100003516","name":"Winn Feline Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003516","id-type":"DOI","asserted-by":"publisher"}]},{"name":"George and Phyllis Miller","award":["MT-13-010"],"award-info":[{"award-number":["MT-13-010"]}]},{"name":"George and Phyllis Miller","award":["MTW15-017"],"award-info":[{"award-number":["MTW15-017"]}]},{"name":"George and Phyllis Miller","award":["MT18-009"],"award-info":[{"award-number":["MT18-009"]}]},{"name":"George and Phyllis Miller","award":["W16-030"],"award-info":[{"award-number":["W16-030"]}]},{"name":"George and Phyllis Miller","award":["MTW18-009"],"award-info":[{"award-number":["MTW18-009"]}]},{"name":"George and Phyllis Miller","award":["MT19-001"],"award-info":[{"award-number":["MT19-001"]}]},{"DOI":"10.13039\/100003516","name":"Winn Feline Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003516","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>X-linked muscular dystrophy in cats (FXMD) is an uncommon disease, with few reports describing its pathogenic genetic variants. A 9-year-old castrated male domestic shorthair cat was presented with persistent muscle swelling and breathing difficulty from 3\u2009years of age. Serum activity of alanine aminotransferase, aspartate transaminase, and creatine kinase were abnormally high. Physical and neurological examinations showed muscle swelling in the neck and proximal limb, slow gait, and occasional breathing difficulties. Electromyography showed pseudomyotonic discharges and complex repetitive discharges with a \u201cdive-bomber\u201d sound. Histopathology revealed muscle necrosis and regeneration. Whole-genome sequencing identified a novel and unique hemizygous nonsense genetic variant, c.8333G\u2009&amp;gt;\u2009A in dystrophin (DMD), potentially causing a premature termination codon (p.Trp2778Ter). Based on a combination of clinical and histological findings and the presence of the DMD nonsense genetic variant, this case was considered FXMD, which showed mild clinical signs and long-term survival, even though immunohistochemical characterization was lacking.<\/jats:p>","DOI":"10.1111\/jvim.17024","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T06:55:36Z","timestamp":1709103336000},"page":"1160-1166","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Association of a novel\n                    <i>dystrophin (DMD)<\/i>\n                    genetic nonsense variant in a cat with X-linked muscular dystrophy with a mild clinical course"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4268-9155","authenticated-orcid":false,"given":"Harunobu","family":"Muto","sequence":"first","affiliation":[{"name":"Otakibashi Animal Hospital , Tokyo,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3396-6525","authenticated-orcid":false,"given":"Yoshihiko","family":"Yu","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Radiology, Nippon Veterinary and Life Science University , Tokyo,","place":["Japan"]},{"name":"Mitaka , Tokyo,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5273-7221","authenticated-orcid":false,"given":"James K.","family":"Chambers","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo , Tokyo,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6258-9194","authenticated-orcid":false,"given":"Lyndon M.","family":"Coghill","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, Missouri,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuharu","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Otakibashi Animal Hospital , Tokyo,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4823-0318","authenticated-orcid":false,"given":"Kazuyuki","family":"Uchida","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo , Tokyo,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1628-7726","authenticated-orcid":false,"given":"Leslie A.","family":"Lyons","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Missouri Department of Veterinary Pathobiology, , Columbia, 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