Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy

  • 58 Accesses

  • 25 Citations

This is a preview of subscription content, log in to check access.


  1. Bookelman, H., Trijibels, J. M. F., Sengers, R. C. A. and Janssen, A. J. M. Measurement of cytochromes in human skeletal muscle mitochondria isolated from fresh and frozen stored muscle specimens.Biochem. Med. 19 (1978) 366–373

  2. Carafoli, E. and Roman, I. Mitochondria and disease.Mol. Aspects Med. 3 (1985) 295–429

  3. DiMauro, S., Bonilla, E., Nakagawa, M. and DeVivo, D. Mitochondrial myopathies.Ann. Neurol. 17 (1985) 521–538

  4. Hauswirth, W. W. and Laipis, P. J. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows.Proc. Natl. Acad. Sci. USA 79 (1982) 4686–4690

  5. Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies.Nature (London) 331 (1988) 717–719

  6. Kadenbach, B., Jarausch, J., Hartmann, R. and Merle, P. Separation of mammalian cytochromec oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.Anal. Biochem. 129 (1983) 517–521

  7. Kagawa, Y. Dissociation and reassembly of the inner mitochondrial membrane. In Korn, E. D. (ed.)Methods in Membrane Biology, 1st ed., Plenum Press, New York, 1974, pp. 201–269

  8. Kennaway, N. G., Buist, N. R. M., Darley-Usmer, V. M., Papadimitriou, A., DiMauro, S., Kelly, R. I., Capaldi, R. A., Blank, N. K. and D'Agostino, A. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.Pediatr. Res. 18 (1984) 991–999

  9. Kobayashi, M., Morishita, H., Sugiyama, N., Yokochi, K., Nakano, M., Wada, Y., Hotta, Y., Terauchi, A. and Nonaka, I. Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome.J. Pediatr. 110 (1987) 223–227

  10. Miyabayashi, S., Narisawa, K., Tada, K., Sakai, K., Kobayashi, K. and Kobayashi, Y. Two siblings with cytochromec oxidase deficiency.J. Inher. Metab. Dis. 6 (1983) 121–122

  11. Miyabayashi, S., Ito, T., Abukawam, D., Narisawa, K., Tada, K., Tanaka, M., Ozawa, T., Droste, M. and Kadenbach, B. Immunological study in three patients with cytochromec oxidase deficiency presenting Leigh's encephalomyelopathy.J. Inher. Metab. Dis. 10 (1987) 289–292

  12. Noer, A. S., Maruzuki, S., Trounce, I. and Byrne, E. Mitochondrial DNA deletion in encephalomyelopathy.Lancet 2 (1988) 1253–1254

  13. Pennington, R. J., Biochemistry of dystrophic muscle. Mitochondrial succinate-tetrazolium reductase and adenosine triphosphatase.Biochem. J. 80 (1961) 649–654

  14. Sanadi, D. R., Pharo, R. L. and Sordahl, L. A. NADH-CoQ assay and purification. In Estabrook, R. W. and Pullman, M. E. (eds.)Methods in Enzymology, Academic Press, New York and London, 1967, pp. 297–302

  15. Seligman, A. M., Karnovsky, M. J., Wasserkrug, H. L. and Hanker, J. S. Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).J. Cell. Biol. 38 (1968) 1–14

  16. Tanaka, M., Miyabayashi, S., Nishikimi, M., Suzuki, H., Shimomura, Y., Ito, K., Narisawa, K., Tada, K. and Ozawa, T. Extensive defects of mitochondrial electron-transfer chain in muscular cytochromec oxidase deficiency.Pediatr. Res. 24 (1988) 447–454

  17. Towbin, H., Staehelin, T. and Gordon, J. Electrophoretic transfer of proteins from polyacrylamide gel to nitrocellulose sheets: procedure and some applications.Proc. Natl. Acad. Sci. USA 76 (1979) 4350–4354

  18. Wharton, D. C. and Tzagoloff, A. Cytochrome oxidase from beef heart mitochondria. In Estabrook, R. W. and Pullman, M. E. (eds.)Methods in Enzymology, Academic Press, New York and London, 1967, pp. 245–250

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Miyabayashi, S., Haginoya, K., Hanamizu, H. et al. Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy. J Inherit Metab Dis 12, 373–377 (1989). https://doi.org/10.1007/BF01799245

Download citation


  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Myopathy
  • Mitochondrial Myopathy