title: Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs.
abstract: Muscular dystrophy was diagnosed in seven male Japanese Spitz dogs with clinical signs of slowly progressive exercise intolerance, generalized weakness, myalgia, difficulty chewing and dysphagia. Serum creatine kinase (CK) concentrations were markedly elevated. Histopathology showed degeneration and regeneration of muscle, consistent with a dystrophic phenotype. Immunohistochemical staining for dystrophin and related proteins showed no staining with a monoclonal antibody against the rod domain of dystrophin but near-normal staining with an antibody against the C terminus. Immunoblot analysis in two affected dogs showed a truncated dystrophin protein of approximately 70-80 kDa. The severity of disease showed that this fragment was not large enough to protect from the dystrophic process.
authors.affiliation: Department of Small Animal Clinical Studies, University College, Dublin, Ireland.
authors.forename: Boyd R
authors.initials: BR
authors.lastname: Jones
authors.forename: Sheila
authors.initials: S
authors.lastname: Brennan
authors.forename: Carmel T
authors.initials: CT
authors.lastname: Mooney
authors.forename: John J
authors.initials: JJ
authors.lastname: Callanan
authors.forename: Hester
authors.initials: H
authors.lastname: McAllister
authors.forename: Ling T
authors.initials: LT
authors.lastname: Guo
authors.forename: Paul T
authors.initials: PT
authors.lastname: Martin
authors.forename: Eva
authors.initials: E
authors.lastname: Engvall
authors.forename: G Diane
authors.initials: GD
authors.lastname: Shelton
mesh_terms: D000818:Animals; D015153:Blotting, Western; D003402:Creatine Kinase / Q000097:blood; D003680:Deglutition Disorders / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D004283:Dog Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D004285:Dogs; D016189:Dystrophin / Q000032:analysis* / Q000235:genetics; D017079:Exercise Tolerance / Q000235:genetics; D008297:Male; D008970:Molecular Weight; D018908:Muscle Weakness / Q000097:blood / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D009137:Muscular Dystrophy, Animal / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D010446:Peptide Fragments; D017434:Protein Structure, Tertiary / Q000235:genetics; D011859:Radiography
chemical_list: D016189:Dystrophin; D010446:Peptide Fragments; D003402:Creatine Kinase