The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Mitochondrial Myopathies

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Mitochondrial Myopathies


Psychiatry related information on Mitochondrial Myopathies


High impact information on Mitochondrial Myopathies


Chemical compound and disease context of Mitochondrial Myopathies


Biological context of Mitochondrial Myopathies


Anatomical context of Mitochondrial Myopathies


Gene context of Mitochondrial Myopathies


Analytical, diagnostic and therapeutic context of Mitochondrial Myopathies


  1. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Graham, B.H., Waymire, K.G., Cottrell, B., Trounce, I.A., MacGregor, G.R., Wallace, D.C. Nat. Genet. (1997) [Pubmed]
  2. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. King, M.P., Koga, Y., Davidson, M., Schon, E.A. Mol. Cell. Biol. (1992) [Pubmed]
  3. Mitochondrial DNA in focal dystonia: a cybrid analysis. Tabrizi, S.J., Cooper, J.M., Schapira, A.H. Ann. Neurol. (1998) [Pubmed]
  4. MELAS- and Kearns-Sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy. Ohno, K., Yamamoto, M., Engel, A.G., Harper, C.M., Roberts, L.R., Tan, G.H., Fatourechi, V. Ann. Neurol. (1996) [Pubmed]
  5. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Silvestri, G., Santorelli, F.M., Shanske, S., Whitley, C.B., Schimmenti, L.A., Smith, S.A., DiMauro, S. Hum. Mutat. (1994) [Pubmed]
  6. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. Bindoff, L.A., Desnuelle, C., Birch-Machin, M.A., Pellissier, J.F., Serratrice, G., Dravet, C., Bureau, M., Howell, N., Turnbull, D.M. J. Neurol. Sci. (1991) [Pubmed]
  7. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. Andreu, A.L., Hanna, M.G., Reichmann, H., Bruno, C., Penn, A.S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., Morgan-Hughes, J., DiMauro, S. N. Engl. J. Med. (1999) [Pubmed]
  8. Mitochondrial myopathy caused by long-term zidovudine therapy. Dalakas, M.C., Illa, I., Pezeshkpour, G.H., Laukaitis, J.P., Cohen, B., Griffin, J.L. N. Engl. J. Med. (1990) [Pubmed]
  9. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. Hall, R.E., Henriksson, K.G., Lewis, S.F., Haller, R.G., Kennaway, N.G. J. Clin. Invest. (1993) [Pubmed]
  10. Lack of voltage-dependent anion channel in human mitochondrial myopathies. Huizing, M., Ruitenbeek, W., Thinnes, F.P., DePinto, V. Lancet (1994) [Pubmed]
  11. Vitamin E in a mitochondrial myopathy with proliferating mitochondria. Bakker, H.D., Scholte, H.R., Jeneson, J.A. Lancet (1993) [Pubmed]
  12. Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Musumeci, O., Andreu, A.L., Shanske, S., Bresolin, N., Comi, G.P., Rothstein, R., Schon, E.A., DiMauro, S. Am. J. Hum. Genet. (2000) [Pubmed]
  13. Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies. Stadhouders, A.M., Jap, P.H., Winkler, H.P., Eppenberger, H.M., Wallimann, T. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  14. Mitochondrial disease in superoxide dismutase 2 mutant mice. Melov, S., Coskun, P., Patel, M., Tuinstra, R., Cottrell, B., Jun, A.S., Zastawny, T.H., Dizdaroglu, M., Goodman, S.I., Huang, T.T., Miziorko, H., Epstein, C.J., Wallace, D.C. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  15. Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage. Dalakas, M.C., Leon-Monzon, M.E., Bernardini, I., Gahl, W.A., Jay, C.A. Ann. Neurol. (1994) [Pubmed]
  16. Exercise fuel mobilization in mitochondrial myopathy: a metabolic dilemma. Vissing, J., Galbo, H., Haller, R.G. Ann. Neurol. (1996) [Pubmed]
  17. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Taylor, R.W., Chinnery, P.F., Haldane, F., Morris, A.A., Bindoff, L.A., Wilson, J., Turnbull, D.M. Ann. Neurol. (1996) [Pubmed]
  18. A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. Hammans, S.R., Sweeney, M.G., Wicks, D.A., Morgan-Hughes, J.A., Harding, A.E. Brain (1992) [Pubmed]
  19. A case of late-onset MELAS. Kimata, K.G., Gordan, L., Ajax, E.T., Davis, P.H., Grabowski, T. Arch. Neurol. (1998) [Pubmed]
  20. Muscle coenzyme Q10 level in statin-related myopathy. Lamperti, C., Naini, A.B., Lucchini, V., Prelle, A., Bresolin, N., Moggio, M., Sciacco, M., Kaufmann, P., DiMauro, S. Arch. Neurol. (2005) [Pubmed]
  21. A familial mitochondrial myopathy with central defect in neural transmission. Barron, S.A., Heffner, R.R., Zwirecki, R. Arch. Neurol. (1979) [Pubmed]
  22. Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes. Kawakami, Y., Sakuta, R., Hashimoto, K., Fujino, O., Fujita, T., Hida, M., Horai, S., Goto, Y., Nonaka, I. Ann. Neurol. (1994) [Pubmed]
  23. Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I., Araki, S. Ann. Neurol. (1993) [Pubmed]
  24. Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene. Vialettes, B., Paquis-Fluckinger, V., Silvestre-Aillaud, P., Ben Dahan, D., Pelissier, J.F., Etchary-Bouyx, F., Raccah, D., Gin, H., Guillausseau, P.J., Vanuxen, D. Diabetes Care (1995) [Pubmed]
  25. Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Hart, Z.H., Chang, C.H., Perrin, E.V., Neerunjun, J.S., Ayyar, R. Arch. Neurol. (1977) [Pubmed]
  26. Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy. Haginoya, K., Miyabayashi, S., Iinuma, K., Tada, K. Acta Neuropathol. (1993) [Pubmed]
  27. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M. Hum. Mol. Genet. (2005) [Pubmed]
  28. Mitochondrial DNA deletions in inclusion body myositis. Oldfors, A., Larsson, N.G., Lindberg, C., Holme, E. Brain (1993) [Pubmed]
  29. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Mancuso, M., Filosto, M., Bonilla, E., Hirano, M., Shanske, S., Vu, T.H., DiMauro, S. Arch. Neurol. (2003) [Pubmed]
  30. The expanding phenotype of mitochondrial myopathy. DiMauro, S., Gurgel-Giannetti, J. Curr. Opin. Neurol. (2005) [Pubmed]
  31. Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? Schuelke, M., Loeffen, J., Mariman, E., Smeitink, J., van den Heuvel, L. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  32. The cerebral metabolism of glucose and oxygen measured with positron tomography in patients with mitochondrial diseases. Frackowiak, R.S., Herold, S., Petty, R.K., Morgan-Hughes, J.A. Brain (1988) [Pubmed]
  33. Modeling in vivo recovery of intracellular pH in muscle to provide a novel index of proton handling: application to the diagnosis of mitochondrial myopathy. Chen, J.T., Taivassalo, T., Argov, Z., Arnold, D.L. Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine. (2001) [Pubmed]
  34. The usefulness of lactate stress testing in the diagnosis of mitochondrial myopathy. Concerning the paper "cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy" by Jeppesen et al. Finsterer, J. J. Neurol. (2005) [Pubmed]
  35. Stress lactate in mitochondrial myopathy under constant, unadjusted workload. Finsterer, J., Milvay, E. Eur. J. Neurol. (2004) [Pubmed]
WikiGenes - Universities