Mitochondrial Myopathies

  • Harold ChenEmail author
Living reference work entry


Mitochondrial myopathies here imply the disorders of the respiratory chain that exclusively or predominantly affect the skeletal muscle (DiMauro and Gurgel-Gianneti 2006). They frequently present with multisystem dysfunction and have a broad variety of phenotypes and genetic etiologies. They can be classified genetically into two major groups: those due to mutations in mitochondrial DNA (mtDNA) and those due to mutations in nuclear DNA (nDNA). The prevalence of mitochondrial disorders as a whole is approximately 1 in 10,000 (Schaefer et al. 2008), although the carrier frequency of mtDNA mutations is about 1 in 200 (Elliott et al. 2008).


Chronic Fatigue Syndrome Spinocerebellar Ataxia Mitochondrial Myopathy Progressive External Ophthalmoplegia Pigmentary Retinopathy 
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  1. Andreu, A. L., Hanna, M. G., Reichmann, H., et al. (1999). Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. New England Journal of Medicine, 341, 1037–1044.CrossRefPubMedGoogle Scholar
  2. Chinnery, P. F. (2014). Mitochondrial disorders overview-GeneReviews®-NCBI Bookshelf. Available at
  3. Chinnery, P. F., DiMauro, S., Shanske, S., et al. (2004). Risk of developing a mitochondrial DNA deletion disorder. Lancet, 364, 592–596.CrossRefPubMedGoogle Scholar
  4. Cui, H., Li, F., Chen, D., et al. (2013). Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genetics in Medicine, 15, 388–394.CrossRefPubMedGoogle Scholar
  5. DiMauro, S. (2006). Mitochondrial myopathies. Current Opinion in Rheumatology, 18, 636–641.CrossRefPubMedGoogle Scholar
  6. DiMauro, S., & Davidzon, G. (2005). Mitochondrial DNA and disease. Annals of Medicine, 37, 222–232.CrossRefPubMedGoogle Scholar
  7. DiMauro, S., & Gurgel-Giannetti, J. (2006). The expanding phenotype of mitochondrial myopathy. Current Opinion in Neurology, 18, 538–542.CrossRefGoogle Scholar
  8. Elliott, H. R., Samuels, D. C., Eden, J. A., et al. (2008). Pathogenic mitochondrial DNA mutations are common in the general population. American Journal of Human Genetics, 83, 254–560.PubMedCentralCrossRefPubMedGoogle Scholar
  9. Gai, X., Ghezzi, D., Johnson, M. A., et al. (2013). Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics, 93, 482–495.PubMedCentralCrossRefPubMedGoogle Scholar
  10. Hays, A. P., Oskoui, M., Tanji, K., et al. (2006). Mitochondrial neurology II: myopathies and peripheral neuropathies. In S. DiMauro, M. Hirano, & E. A. Schon (Eds.), Mitochondrial medicine (pp. 45–74). London: Informa Healthcare.CrossRefGoogle Scholar
  11. Hirano, M., Kaufmann, P., De Vivo, D. C., et al. (2006). Mitochondrial neurology. I: Encephalopathies. In S. DiMauro, M. Hirano, & E. A. Schon (Eds.), Mitochondrial medicine (pp. 27–44). London: Informa Healthcare.Google Scholar
  12. Horvath, R., Scneiderat, P., Schoser, B. G. H., et al. (2006). Coenzyme Q10 deficiency and isolated myopathy. Neurology, 66, 253–255.CrossRefPubMedGoogle Scholar
  13. Ikejiri, Y., Mori, E., Ishii, K., et al. (1996). Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. Neurology, 47, 583–585.CrossRefPubMedGoogle Scholar
  14. Karrpa, M., Herva, R., Moslemi, A.-R., et al. (2005). Spectrum of myopathic findings in 50 patients with the 3243A > G mutation in mitochondrial DNA. Brain, 128, 1861–1869.CrossRefGoogle Scholar
  15. Lalani, S., Vladutiu, G. D., Plunkett, K., et al. (2005). Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Archives of Neurology, 62, 317–320.CrossRefPubMedGoogle Scholar
  16. Milone, M., & Wong, L.-J. (2013). Diagnosis of mitochondrial myopathies. Molecular Genetics and Metabolism, 110, 35–41.CrossRefPubMedGoogle Scholar
  17. Montini, G., Malaventura, C., & Salviati, L. (2008). Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. New England Journal of Medicine, 358, 2849–2850.CrossRefPubMedGoogle Scholar
  18. Pfeffer, G., & Chinnery, P. F. (2013). Diagnosis and treatment of mitochondrial myopathies. Annals of Medicine, 45, 4–16.PubMedCentralCrossRefPubMedGoogle Scholar
  19. Poulton, J., & Turnbull, D. M. (2000). 74th ENMC International workshop: mitochondrial diseases 19–20 November 1999, Naarden, the Netherlands. Neuromuscular Disorders, 10, 460–462.CrossRefPubMedGoogle Scholar
  20. Pulkes, T., Liolitsa, D., Eunson, L. H., et al. (2005). New phenotypic diversity associated with the mitochondrial tRNASer(UCN) gene mutation. Neuromuscular Disorders, 15, 364–371.CrossRefPubMedGoogle Scholar
  21. Schaefer, A. M., Blakely, E. L., Griffiths, P. G., et al. (2005). Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. Muscle and Nerve, 32, 104–107.CrossRefPubMedGoogle Scholar
  22. Schaefer, A. M., McFarland, R., Blakely, E. L., et al. (2008). Prevalence of mitochondrial DNA disease in adults. Annals of Neurology, 63, 35–39.CrossRefPubMedGoogle Scholar
  23. Schapira, A. H. (2006). Mitochondrial disease. Lancet, 368, 70–82.CrossRefPubMedGoogle Scholar
  24. Spinazzola, A., & Zeviani, M. (2005). Disorders of nuclear-mitochondrial intergenomic signaling. Gene, 354, 162–168.CrossRefPubMedGoogle Scholar
  25. Tan, S., Wang, J., Lee, N.-C., et al. (2011). Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum. Journal of Medical Genetics, 48, 669–681.CrossRefGoogle Scholar
  26. Taylor, R. W., Schaefer, A. M., Barron, M. J., et al. (2004). The diagnosis of mitochondrial muscle disease. Neuromuscular Disorders, 14, 237–245.Google Scholar
  27. Treff, N. R., Campos, J., Tao, J., et al. (2012). Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertility and Sterility, 98, 1236–1240.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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