{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:42:35Z","timestamp":1763746955115,"version":"3.38.0"},"reference-count":38,"publisher":"American Veterinary Medical Association (AVMA)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["javma"],"published-print":{"date-parts":[[2011,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>Case Description<\/jats:bold>\u20142 full-sibling male German Shorthaired Pointer (GSHP) puppies (dogs 1 and 2) with X-linked muscular dystrophy and deletion of the dystrophin gene (gene symbol, <jats:italic>DMD<\/jats:italic>) each had poor growth, skeletal muscle atrophy, pelvic limb weakness, episodic collapse, and episodes of coughing.<\/jats:p>\n<jats:p><jats:bold>Clinical Findings<\/jats:bold>\u2014Initial examination revealed stunted growth, brachygnathism, trismus, and diffuse neuromuscular signs in each puppy; clinical signs were more severe in dog 2 than in dog 1. Immunohistochemical analysis revealed a lack of dystrophin protein in both dogs. During the next 3 years, each dog developed hyperinflation of the lungs, hypertrophy of the cervical musculature, and hypertrophy of the lateral head of the triceps brachii muscle.<\/jats:p>\n<jats:p><jats:bold>Treatment and Outcome<\/jats:bold>\u2014Monitoring and supportive care were provided at follow-up visits during an approximately 7-year period. No other specific treatment was provided. Neuromuscular signs in both dogs remained stable after 3 years of age, with dog 2 consistently more severely affected than dog 1. The dogs had multiple episodes of aspiration pneumonia; dogs 1 and 2 were euthanatized at 84 and 93 months of age, respectively.<\/jats:p>\n<jats:p><jats:bold>Clinical Relevance<\/jats:bold>\u2014The clinical course of disease in these dogs was monitored for a longer period than has been monitored in previous reports of dystrophin-deficient dogs. The clinical progression of muscular dystrophy in the 2 GSHPs was compared with that for other breeds and species with dystrophin-deficient conditions, and the potential basis for the phenotypic variation observed between these littermates, along with potential therapeutic ramifications for dogs and humans, was evaluated.<\/jats:p>","DOI":"10.2460\/javma.238.2.207","type":"journal-article","created":{"date-parts":[[2011,1,15]],"date-time":"2011-01-15T08:02:38Z","timestamp":1295078558000},"page":"207-212","source":"Crossref","is-referenced-by-count":9,"title":["Clinical progression of X-linked muscular dystrophy in two German Shorthaired Pointers"],"prefix":"10.2460","volume":"238","author":[{"given":"Natasha J.","family":"Olby","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nick J. H.","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter E","family":"Nghiem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce W.","family":"Keene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa C.","family":"DeFrancesco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Sidley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe N.","family":"Kornegay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott J.","family":"Schatzberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1272","reference":[{"key":"ref1","series-title":"Vet Clin North Am Small Anim Pract","first-page":"1497","article-title":"Newly identified neuromuscular disorders","volume":"34","author":"Schatzberg","year":"2004"},{"key":"ref2","series-title":"Neuromuscul Disord","first-page":"127","article-title":"Canine and feline models of human inherited muscle diseases","volume":"15","author":"Shelton","year":"2005"},{"key":"ref3","series-title":"Genomics","first-page":"115","article-title":"An error in dystrophin mRNA processing in Golden Retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy","volume":"13","author":"Sharp","year":"1992"},{"article-title":"Molecular characterization of severe Duchenne-type muscular dystrophy in a family of rottweiler dogs","series-title":"Proceedings","author":"Winand","key":"ref4"},{"key":"ref5","series-title":"Neuromuscul Disord","first-page":"289","article-title":"Molecular analysis of a spontaneous dystrophin \u2018knockout\u2019 dog","volume":"9","author":"Schatzberg","year":"1999"},{"key":"ref6","series-title":"J Med Genet","first-page":"745","article-title":"Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. 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