Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs.
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.
Jones
Boyd R
BR
Department of Small Animal Clinical Studies, University College, Dublin, Ireland.
Brennan
Sheila
S
Mooney
Carmel T
CT
Callanan
John J
JJ
McAllister
Hester
H
Guo
Ling T
LT
Martin
Paul T
PT
Engvall
Eva
E
Shelton
G Diane
GD
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
D016189:Dystrophin; D010446:Peptide Fragments; D003402:Creatine Kinase