{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T10:19:15Z","timestamp":1790849955505,"version":"4.1.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:00:00Z","timestamp":1771027200000},"content-version":"vor","delay-in-days":836,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T00:00:00Z","timestamp":1694649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Two (male and female) 10-month-old American Staffordshire Terrier littermates presented for progressive weakness, joint contracture, and distal limb joint hyperlaxity beginning around 6\u2009months of age. Neurological examination, serum creatine kinase activity, infectious disease titers, cerebrospinal fluid analysis, and electrodiagnostic testing were performed. Muscle biopsies were collected for histopathology and immunofluorescence staining for localization of dystrophy associated proteins. Whole-genome sequencing (WGS) was performed on 1 affected dog. Variants were compared to a database of 671 unaffected dogs of multiple breeds. Histopathology confirmed a dystrophic phenotype and immunofluorescence staining of muscle cryosections revealed an absence of staining for collagen-6. WGS identified a homozygous 1\u2009bp deletion in the COL6A3 gene, unique to the first affected dog. Sanger sequencing confirmed the homozygous presence of the frameshift variant in both affected dogs. This report describes the clinical features and most likely genetic basis of an Ullrich-like recessively inherited form of congenital muscular dystrophy in American Staffordshire Terriers.<\/jats:p>","DOI":"10.1111\/jvim.16862","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T12:43:48Z","timestamp":1694695428000},"page":"2504-2509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9556-0921","authenticated-orcid":false,"given":"Leanne","family":"Jankelunas","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine, Washington State University Department of Veterinary Clinical Sciences, , Pullman, Washington,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2879-9593","authenticated-orcid":false,"given":"Vishal D.","family":"Murthy","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, Washington State University Department of Veterinary Clinical Sciences, , Pullman, Washington,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie V.","family":"Chen","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, Washington State University Department of Veterinary Clinical Sciences, , Pullman, Washington,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie M.","family":"Minor","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary Clinical Sciences, , Saint Paul, Minnesota,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7510-2322","authenticated-orcid":false,"given":"Steven G.","family":"Friedenberg","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary Clinical Sciences, , Saint Paul, Minnesota,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonah N.","family":"Cullen","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary Clinical Sciences, , Saint Paul, Minnesota,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling T.","family":"Guo","sequence":"additional","affiliation":[{"name":"School of Medicine, University of California San Diego Department of Pathology, , La Jolla, California,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Mickelson","sequence":"additional","affiliation":[{"name":"College of Veterinary Medicine, University of Minnesota Department of Veterinary and Biomedical Sciences, , Saint Paul, Minnesota,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3332-1359","authenticated-orcid":false,"given":"G. 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