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  • Title: Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs.
    Author: Jones BR, Brennan S, Mooney CT, Callanan JJ, McAllister H, Guo LT, Martin PT, Engvall E, Shelton GD.
    Journal: J Neurol Sci; 2004 Feb 15; 217(2):143-9. PubMed ID: 14706216.
    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.
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