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.
Keywords
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References
- Dystrophin: the protein product of the Duchenne muscular dystrophy locus.Cell. 1987; 51: 919-928
- The heart in Becker muscular dystrophy, fascioscapulohumeral dystrophy, and Bethlem myopathy.Muscle Nerve. 1992; 15: 591-596
- Very mild muscular dystrophy associated with the deletion of 46% of dystrophin.Nature. 1990; 343: 180-182
- Muscular dystrophies and the dystrophin–glycoprotein complex.Curr. Opin. Neurol. 1997; 10: 168-175
- Merosin/laminin-2 and muscular dystrophy.Neuromuscul. Disord. 1996; 6: 409-418
- Three muscular dystrophies: loss of cytoskeleton–extracellular matrix linkage.Cell. 1995; 80: 675-679
- Canine muscular dystrophy: confirmation of X-linked inheritance.J. Hered. 1988; 79: 405-408
- Muscular dystrophy in a litter of golden retriever dogs.Muscle Nerve. 1988; 11: 1056-1064
- An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy.Genomics. 1992; 13: 115-121
- Molecular characterization of severe Duchenne-type dystrophy in a family of Rottweiler dogs.Molecular mechanisms of neuromuscular disease. Muscular Dystrophy Association, Tucson, AZ1994
- Molecular analysis of a spontaneous dystrophin “knockout” dog.Neuromuscul. Disord. 1999; 9: 289-295
- Canine X-linked muscular dystrophy as an animal model of Duchenne muscular dystrophy: a review.Am. J. Med. Gen. 1992; 42: 352-356
- Canine X linked muscular dystrophy in Belgian Groendaeler Shepherds.J. Am. Anim. Hosp. Assoc. 1993; 29: 570-574
- Congenital dystrophy-like myopathy in a Brittany spaniel puppy.Prog. Vet. Neurol. 1995; 6: 135-138
- Myopathy with a possible recessive x-linked inheritance in a litter of Irish terriers.Vet. Pathol. 1972; 9: 328-349
- Muscular dystrophy in a miniature Schnauzer.Prog. Vet. Neurol. 1993; 4: 14-18
- Hypertrophic muscular dystrophy in a young rat terrier.J. Am. Vet. Med. Assoc. 2000; 216: 878-881
- Diagnostic techniques.(Chapter 4)in: Clinical syndromes in veterinary neurology. Mosby, St. Louis1994: 396
Callis EM. Bone. In: Bancroft JD, Gamble M eds, The Theory and Practice of Histological Techniques, vol. 202. 5th Ed. London: Churchill Livingstone. p. 293.
- Muscle biopsy.in: Dubowitz V. Muscle biopsy: a practical approach. 2nd ed. Bailliere Tindall, Philadelphia1985: 19-40
- Sarcoglycan isoforms in skeletal muscle.J. Biol. Chem. 1999; 274: 38171-38176
- Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development.Proc. Natl. Acad. Sci. U. S. A. 1988; 85: 1544-1548
- Muscular dystrophies and other inherited myopathies.in: Shelton G.D. The veterinary clinics of North America. Neuromuscular Diseases. vol. 32. W.B. Saunders Co, Philadelphia2002: 103-124
- Dystrophinopathies.in: Engel A.E. Franzini-Armstron C. Myology. 2nd ed. McGraw-Hill, New York1994: 1144
- Boys with Duchenne and Becker muscular dystrophy are clinically indistinguishable at presentation (abstract).Ann. Neurol. 1990; 28: 443
- Digestive system 1—alimentary canal.in: Applied veterinary histology. 3rd ed. Mosby, St. Louis1993: 336
- The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: I. Natural history.J. Neurol. 1993; 240: 98-104
- Increased serum alanine aminotransferase activity associated with muscle necrosis in the dog.J. Vet. Intern. Med. 1990; 4: 140-143
- Preservation of the C-terminus of the dystrophin molecule in the skeletal muscle from Becker muscular dystrophy.J. Neurol. Sci. 1991; 101: 148-156
- Dystrophinopathies.in: Karpati G. Structural and molecular basis of skeletal muscle diseases. ISN Neuropath Press, Basel2002: 6-23
- The N-terminal half of dystrophin is protected from proteolysis in situ.Biochem. Biophys. Res. Commun. 1995; 209: 1062-1067
- Micro-dystrophin cDNA ameliorates dystrophic phenotypes when introduced into mdx mice as a transgene.Biochem. Biophys. Res. Commun. 2002; 293: 1265-1272
- Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy.Nat. Med. 2002; 8: 253-261
- Exogenous Dp71 is a dominant negative competitor of dystrophin in skeletal muscle.Neuromuscul. Disord. 2002; 12: 836-844
Article info
Publication history
Accepted:
September 10,
2003
Received in revised form:
September 2,
2003
Received:
February 6,
2003
Footnotes
☆Abstract presented at the 19th annual Veterinary Medical Forum, American College of Veterinary Internal Medicine, Denver, CO, June 2001 and at the Association of Veterinary Teachers and Research Workers, Dublin, December 2001.
Identification
Copyright
© 2003 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
