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MeSH Review

Mitochondrial Encephalomyopathies

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Disease relevance of Mitochondrial Encephalomyopathies


Psychiatry related information on Mitochondrial Encephalomyopathies


High impact information on Mitochondrial Encephalomyopathies


Chemical compound and disease context of Mitochondrial Encephalomyopathies


Biological context of Mitochondrial Encephalomyopathies


Anatomical context of Mitochondrial Encephalomyopathies


Gene context of Mitochondrial Encephalomyopathies


Analytical, diagnostic and therapeutic context of Mitochondrial Encephalomyopathies


  1. Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. Zinn, A.B., Kerr, D.S., Hoppel, C.L. N. Engl. J. Med. (1986) [Pubmed]
  2. The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Moraes, C.T., Ricci, E., Bonilla, E., DiMauro, S., Schon, E.A. Am. J. Hum. Genet. (1992) [Pubmed]
  3. A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Noer, A.S., Sudoyo, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E., Marzuki, S. Am. J. Hum. Genet. (1991) [Pubmed]
  4. Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. Hsieh, F., Gohh, R., Dworkin, L. J. Am. Soc. Nephrol. (1996) [Pubmed]
  5. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation. Remes, A.M., Majamaa, K., Herva, R., Hassinen, I.E. Neurology (1993) [Pubmed]
  6. HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Grünwald, F., Zierz, S., Broich, K., Schumacher, S., Bockisch, A., Biersack, H.J. J. Nucl. Med. (1990) [Pubmed]
  7. A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain. Nishizawa, M., Tanaka, K., Shinozawa, K., Kuwabara, T., Atsumi, T., Miyatake, T., Ohama, E. J. Neurol. Sci. (1987) [Pubmed]
  8. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Hess, J.F., Parisi, M.A., Bennett, J.L., Clayton, D.A. Nature (1991) [Pubmed]
  9. Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy. Ino, H., Tanaka, M., Ohno, K., Hattori, K., Ikebe, S., Sano, T., Ozawa, T., Ichiki, T., Kobayashi, M., Wada, Y. Lancet (1991) [Pubmed]
  10. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Keightley, J.A., Anitori, R., Burton, M.D., Quan, F., Buist, N.R., Kennaway, N.G. Am. J. Hum. Genet. (2000) [Pubmed]
  11. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. Clark, K.M., Taylor, R.W., Johnson, M.A., Chinnery, P.F., Chrzanowska-Lightowlers, Z.M., Andrews, R.M., Nelson, I.P., Wood, N.W., Lamont, P.J., Hanna, M.G., Lightowlers, R.N., Turnbull, D.M. Am. J. Hum. Genet. (1999) [Pubmed]
  12. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Ogasahara, S., Engel, A.G., Frens, D., Mack, D. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  13. Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Brockmann, K., Bjornstad, A., Dechent, P., Korenke, C.G., Smeitink, J., Trijbels, J.M., Athanassopoulos, S., Villagran, R., Skjeldal, O.H., Wilichowski, E., Frahm, J., Hanefeld, F. Ann. Neurol. (2002) [Pubmed]
  14. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Sobreira, C., Hirano, M., Shanske, S., Keller, R.K., Haller, R.G., Davidson, E., Santorelli, F.M., Miranda, A.F., Bonilla, E., Mojon, D.S., Barreira, A.A., King, M.P., DiMauro, S. Neurology (1997) [Pubmed]
  15. Supplementation with creatine monohydrate in children with mitochondrial encephalomyopathies. Borchert, A., Wilichowski, E., Hanefeld, F. Muscle Nerve (1999) [Pubmed]
  16. Abnormal excretion of urinary phospholipids and sulfatide in patients with mitochondrial encephalomyopathies. Uyama, E., Kutsukake, Y., Hara, A., Uemura, K., Uchino, M., Mita, S., Ando, M., Taketomi, T. Biochem. Biophys. Res. Commun. (1993) [Pubmed]
  17. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Pulkes, T., Eunson, L., Patterson, V., Siddiqui, A., Wood, N.W., Nelson, I.P., Morgan-Hughes, J.A., Hanna, M.G. Ann. Neurol. (1999) [Pubmed]
  18. Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies. Di Giovanni, S., Mirabella, M., Papacci, M., Odoardi, F., Silvestri, G., Servidei, S. Mol. Cell. Neurosci. (2001) [Pubmed]
  19. Evoked potential studies in mitochondrial encephalomyopathy. Tsuji, S., Uozumi, T., Nakano, S., Ohnishi, A., Murai, Y. Arch. Neurol. (1990) [Pubmed]
  20. Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene. Inui, K., Fukushima, H., Tsukamoto, H., Taniike, M., Midorikawa, M., Tanaka, J., Nishigaki, T., Okada, S. J. Pediatr. (1992) [Pubmed]
  21. Muscle coenzyme Q10 in mitochondrial encephalomyopathies. Matsuoka, T., Maeda, H., Goto, Y., Nonaka, I. Neuromuscul. Disord. (1991) [Pubmed]
  22. Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study. Nonaka, I., Koga, Y., Kikuchi, A., Goto, Y. Acta Neuropathol. (1991) [Pubmed]
  23. Cerebrospinal fluid neurone-specific enolase in mitochondrial encephalomyopathies. Finsterer, J., Exner, M., Rumpold, H. Metabolic brain disease. (2005) [Pubmed]
  24. Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). Ohkoshi, K., Ishida, N., Yamaguchi, T., Kanki, K. Cornea (1989) [Pubmed]
  25. Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. Kaido, M., Fujimura, H., Taniike, M., Yoshikawa, H., Toyooka, K., Yorifuji, S., Inui, K., Okada, S., Sparaco, M., Yanagihara, T. J. Neurol. Sci. (1995) [Pubmed]
  26. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Goto, Y., Nonaka, I., Horai, S. Nature (1990) [Pubmed]
  27. Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. Jaksch, M., Gerbitz, K.D., Kilger, C. Clin. Biochem. (1995) [Pubmed]
  28. Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206. Jesina, P., Tesarová, M., Fornůsková, D., Vojtísková, A., Pecina, P., Kaplanová, V., Hansíková, H., Zeman, J., Houstek, J. Biochem. J. (2004) [Pubmed]
  29. Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. Kosinski, C., Mull, M., Lethen, H., Töpper, R. Stroke (1995) [Pubmed]
  30. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Naini, A.B., Lu, J., Kaufmann, P., Bernstein, R.A., Mancuso, M., Bonilla, E., Hirano, M., DiMauro, S. Arch. Neurol. (2005) [Pubmed]
  31. Localization and amount of myoglobin and myoglobin mRNA in ragged-red fiber of patients with mitochondrial encephalomyopathy. Kunishige, M., Mitsui, T., Akaike, M., Shono, M., Kawai, H., Saito, S. Muscle Nerve (1996) [Pubmed]
  32. Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. Chen, R.S., Huang, C.C., Chu, N.S. Eur. Neurol. (1997) [Pubmed]
  33. Brain metabolism in mitochondrial encephalomyopathy: a PET study. De Volder, A., Ghilain, S., de Barsy, T., Goffinet, A.M. Journal of computer assisted tomography. (1988) [Pubmed]
  34. Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. Tanaka, J., Nagai, T., Arai, H., Inui, K., Yamanouchi, H., Goto, Y., Nonaka, I., Okada, S. Brain Dev. (1997) [Pubmed]
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