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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Myoglobinuria


Psychiatry related information on Myoglobinuria


High impact information on Myoglobinuria


Chemical compound and disease context of Myoglobinuria


Biological context of Myoglobinuria


Anatomical context of Myoglobinuria


Gene context of Myoglobinuria

  • Thirty patients had specific enzymopathies without myoglobinuria: 14 had phosphorylase deficiency, 9 had MAD deficiency, 3 had phosphorylase kinase deficiency, 3 had PFK deficiency, and 1 had PGAM deficiency [27].
  • Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria [28].
  • A 15-base pair, in-frame, deletion (9480del15) in the mitochondrial DNA (mtDNA)-encoded cytochrome c oxidase subunit III (COX III) gene was identified previously in a patient with recurrent episodes of myoglobinuria and an isolated COX deficiency [29].
  • A 61-year-old woman with muscle phosphofructokinase (PFK) deficiency had mild limb weakness all her life but no cramps or myoglobinuria [30].
  • Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria [31].

Analytical, diagnostic and therapeutic context of Myoglobinuria


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  2. Myopathy and rhabdomyolysis associated with lovastatin-gemfibrozil combination therapy. Pierce, L.R., Wysowski, D.K., Gross, T.P. JAMA (1990) [Pubmed]
  3. Histopathology of cocaine hepatotoxicity. Report of four patients. Wanless, I.R., Dore, S., Gopinath, N., Tan, J., Cameron, R., Heathcote, E.J., Blendis, L.M., Levy, G. Gastroenterology (1990) [Pubmed]
  4. Rhabdomyolysis and shock after intravenous amphetamine administration. Kendrick, W.C., Hull, A.R., Knochel, J.P. Ann. Intern. Med. (1977) [Pubmed]
  5. Influenza and myoglobinuria in brothers. Zamkoff, K., Rosen, N. Neurology (1979) [Pubmed]
  6. Disorders of spinal cord, nerve, and muscle. Shafer, S.Q. Neurologic clinics. (1993) [Pubmed]
  7. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Keightley, J.A., Hoffbuhr, K.C., Burton, M.D., Salas, V.M., Johnston, W.S., Penn, A.M., Buist, N.R., Kennaway, N.G. Nat. Genet. (1996) [Pubmed]
  8. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Taroni, F., Verderio, E., Dworzak, F., Willems, P.J., Cavadini, P., DiDonato, S. Nat. Genet. (1993) [Pubmed]
  9. Clofibrate-induced muscle damage with myoglobinuria and cardiomyopathy. Smals, A.G., Beex, L.V., Kloppenborg, P.W. N. Engl. J. Med. (1977) [Pubmed]
  10. Letter: Karate myoglobinuria. Russel, S.M., Lewis, A. N. Engl. J. Med. (1975) [Pubmed]
  11. Myoglobinuria following aminocaproic acid administration. Rizza, R.A., Sclonick, S., Conley, C.L. JAMA (1976) [Pubmed]
  12. 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]
  13. Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency. Reza, M.J., Kar, N.C., Pearson, C.M., Kark, R.A. Ann. Intern. Med. (1978) [Pubmed]
  14. Acute renal failure due to nontraumatic rhabdomyolysis. Koffler, A., Friedler, R.M., Massry, S.G. Ann. Intern. Med. (1976) [Pubmed]
  15. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. DiMauro, S., Dalakas, M., Miranda, A.F. Ann. Neurol. (1983) [Pubmed]
  16. Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Tein, I., De Vivo, D.C., Hale, D.E., Clarke, J.T., Zinman, H., Laxer, R., Shore, A., DiMauro, S. Ann. Neurol. (1991) [Pubmed]
  17. Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Merlini, L., Gooding, R., Lochmüller, H., Müller-Felber, W., Walter, M.C., Angelicheva, D., Talim, B., Hallmayer, J., Kalaydjieva, L. Neurology (2002) [Pubmed]
  18. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. Ookawara, T., Davé, V., Willems, P., Martin, J.J., de Barsy, T., Matthys, E., Yoshida, A. Arch. Biochem. Biophys. (1996) [Pubmed]
  19. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. McFarland, R., Taylor, R.W., Chinnery, P.F., Howell, N., Turnbull, D.M. Neuromuscul. Disord. (2004) [Pubmed]
  20. Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. Bruno, C., Bado, M., Minetti, C., Cordone, G., DiMauro, S. J. Child Neurol. (2000) [Pubmed]
  21. Exercise intolerance and the mitochondrial respiratory chain. DiMauro, S. Italian journal of neurological sciences. (1999) [Pubmed]
  22. Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. Tein, I., Christodoulou, J., Donner, E., McInnes, R.R. J. Pediatr. (1994) [Pubmed]
  23. Carnitine-palmityl-transferase deficiency. Cumming, W.J., Hardy, M., Hudgson, P., Walls, J. J. Neurol. Sci. (1976) [Pubmed]
  24. Clinicopathologic characteristics of polymyositis patients with numerous tissue eosinophils. Kumamoto, T., Ueyama, H., Fujimoto, S., Nagao, S., Tsuda, T. Acta neurologica Scandinavica. (1996) [Pubmed]
  25. Dystrophin expression in skin biopsy immunohistochemical. Localisation of striated muscle type dystrophin. Marbini, A., Marcello, N., Bellanova, M.F., Guidetti, D., Ferrari, A., Gemignani, F. J. Neurol. Sci. (1995) [Pubmed]
  26. Factors in delayed muscle soreness. Abraham, W.M. Medicine and science in sports. (1977) [Pubmed]
  27. Metabolic causes of myoglobinuria. Tonin, P., Lewis, P., Servidei, S., DiMauro, S. Ann. Neurol. (1990) [Pubmed]
  28. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Bruno, C., Minetti, C., Shanske, S., Morreale, G., Bado, M., Cordone, G., DiMauro, S. Neurology (1998) [Pubmed]
  29. A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase. Hoffbuhr, K.C., Davidson, E., Filiano, B.A., Davidson, M., Kennaway, N.G., King, M.P. J. Biol. Chem. (2000) [Pubmed]
  30. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Hays, A.P., Hallett, M., Delfs, J., Morris, J., Sotrel, A., Shevchuk, M.M., DiMauro, S. Neurology (1981) [Pubmed]
  31. Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. Saunier, P., Chretien, D., Wood, C., Rötig, A., Bonnefont, J.P., Saudubray, J.M., Rabier, D., Munnich, A., Rustin, P. Neuromuscul. Disord. (1995) [Pubmed]
  32. Renal lesions in rhabdomyolysis caused by Pseudechis australis snake myotoxin. Ponraj, D., Gopalakrishnakone, P. Kidney Int. (1997) [Pubmed]
  33. Low molecular weight proteinuria in association with paroxysmal myoglobinuria. Ravnskov, U. Clin. Nephrol. (1975) [Pubmed]
  34. Rhabdomyolysis. Singh, D., Chander, V., Chopra, K. Methods and findings in experimental and clinical pharmacology. (2005) [Pubmed]
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