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MeSH Review

Muscular Diseases

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Disease relevance of Muscular Diseases


Psychiatry related information on Muscular Diseases


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Chemical compound and disease context of Muscular Diseases


Biological context of Muscular Diseases


Anatomical context of Muscular Diseases


Gene context of Muscular Diseases


Analytical, diagnostic and therapeutic context of Muscular Diseases


  1. Mutations in the sarcoglycan genes in patients with myopathy. Duggan, D.J., Gorospe, J.R., Fanin, M., Hoffman, E.P., Angelini, C. N. Engl. J. Med. (1997) [Pubmed]
  2. 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]
  3. A mutation in the human ryanodine receptor gene associated with central core disease. Zhang, Y., Chen, H.S., Khanna, V.K., De Leon, S., Phillips, M.S., Schappert, K., Britt, B.A., Browell, A.K., MacLennan, D.H. Nat. Genet. (1993) [Pubmed]
  4. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Anttonen, A.K., Mahjneh, I., Hämäläinen, R.H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.E. Nat. Genet. (2005) [Pubmed]
  5. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Liu, J., Aoki, M., Illa, I., Wu, C., Fardeau, M., Angelini, C., Serrano, C., Urtizberea, J.A., Hentati, F., Hamida, M.B., Bohlega, S., Culper, E.J., Amato, A.A., Bossie, K., Oeltjen, J., Bejaoui, K., McKenna-Yasek, D., Hosler, B.A., Schurr, E., Arahata, K., de Jong, P.J., Brown, R.H. Nat. Genet. (1998) [Pubmed]
  6. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Watts, G.D., Wymer, J., Kovach, M.J., Mehta, S.G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M.P., Kimonis, V.E. Nat. Genet. (2004) [Pubmed]
  7. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. DiMauro, S., Dalakas, M., Miranda, A.F. Ann. Neurol. (1983) [Pubmed]
  8. Amyloid-beta deposition in skeletal muscle of transgenic mice: possible model of inclusion body myopathy. Fukuchi, K., Pham, D., Hart, M., Li, L., Lindsey, J.R. Am. J. Pathol. (1998) [Pubmed]
  9. White muscle disease in humans: myopathy caused by selenium deficiency in anorexia nervosa under long term total parenteral nutrition. Ishihara, H., Kanda, F., Matsushita, T., ChiharaK, n.u.l.l., Itoh, K. J. Neurol. Neurosurg. Psychiatr. (1999) [Pubmed]
  10. Muscle antioxidant status in chronic alcoholism. Fernández-Solà, J., García, G., Elena, M., Tobías, E., Sacanella, E., Estruch, R., Nicolás, J.M. Alcohol. Clin. Exp. Res. (2002) [Pubmed]
  11. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N.I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L.M., Schröder, J.M., Lochmüller, H., Topaloglu, H., Voit, T., Weis, J., Ebinger, F., Zerres, K. Nat. Genet. (2005) [Pubmed]
  12. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Irwin, W.A., Bergamin, N., Sabatelli, P., Reggiani, C., Megighian, A., Merlini, L., Braghetta, P., Columbaro, M., Volpin, D., Bressan, G.M., Bernardi, P., Bonaldo, P. Nat. Genet. (2003) [Pubmed]
  13. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Gabellini, D., Green, M.R., Tupler, R. Cell (2002) [Pubmed]
  14. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Saada, A., Shaag, A., Mandel, H., Nevo, Y., Eriksson, S., Elpeleg, O. Nat. Genet. (2001) [Pubmed]
  15. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. Turnbull, D.M., Bartlett, K., Stevens, D.L., Alberti, K.G., Gibson, G.J., Johnson, M.A., McCulloch, A.J., Sherratt, H.S. N. Engl. J. Med. (1984) [Pubmed]
  16. Mutations in the integrin alpha7 gene cause congenital myopathy. Hayashi, Y.K., Chou, F.L., Engvall, E., Ogawa, M., Matsuda, C., Hirabayashi, S., Yokochi, K., Ziober, B.L., Kramer, R.H., Kaufman, S.J., Ozawa, E., Goto, Y., Nonaka, I., Tsukahara, T., Wang, J.Z., Hoffman, E.P., Arahata, K. Nat. Genet. (1998) [Pubmed]
  17. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W.G., Baumbach, L., Lancet, D., Asher, E.B., Beckmann, J.S., Argov, Z., Mitrani-Rosenbaum, S. Nat. Genet. (2001) [Pubmed]
  18. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Goldfarb, L.G., Park, K.Y., Cervenáková, L., Gorokhova, S., Lee, H.S., Vasconcelos, O., Nagle, J.W., Semino-Mora, C., Sivakumar, K., Dalakas, M.C. Nat. Genet. (1998) [Pubmed]
  19. Images in clinical medicine. Zidovudine myopathy. Chariot , P. N. Engl. J. Med. (1993) [Pubmed]
  20. Increased axoplasmic flow associated with pargyline under conditions which induce a myopathy. Boegman, R.J., Wood, P.L., Pinaud, L. Nature (1975) [Pubmed]
  21. Examination of a myopathy by phosphorus nuclear magnetic resonance. Gadian, D., Radda, G., Ross, B., Hockaday, J., Bore, P., Taylor, D., Styles, P. Lancet (1981) [Pubmed]
  22. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Coleman, R.A., Winter, H.S., Wolf, B., Gilchrist, J.M., Chen, Y.T. Ann. Intern. Med. (1992) [Pubmed]
  23. The effects of alcoholism on skeletal and cardiac muscle. Urbano-Marquez, A., Estruch, R., Navarro-Lopez, F., Grau, J.M., Mont, L., Rubin, E. N. Engl. J. Med. (1989) [Pubmed]
  24. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M.C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, J.M., Paulin, D., Fardeau, M. Nat. Genet. (1998) [Pubmed]
  25. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. Dalakas, M.C., Park, K.Y., Semino-Mora, C., Lee, H.S., Sivakumar, K., Goldfarb, L.G. N. Engl. J. Med. (2000) [Pubmed]
  26. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Bolhuis, P.A., Hensels, G.W., Hulsebos, T.J., Baas, F., Barth, P.G. Am. J. Hum. Genet. (1991) [Pubmed]
  27. Inclusion body myositis: the mumps virus hypothesis. Nishino, H., Engel, A.G., Rima, B.K. Ann. Neurol. (1989) [Pubmed]
  28. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Grady, R.M., Teng, H., Nichol, M.C., Cunningham, J.C., Wilkinson, R.S., Sanes, J.R. Cell (1997) [Pubmed]
  29. Runx1 prevents wasting, myofibrillar disorganization, and autophagy of skeletal muscle. Wang, X., Blagden, C., Fan, J., Nowak, S.J., Taniuchi, I., Littman, D.R., Burden, S.J. Genes Dev. (2005) [Pubmed]
  30. Targeted inhibition of p38 MAPK promotes hypertrophic cardiomyopathy through upregulation of calcineurin-NFAT signaling. Braz, J.C., Bueno, O.F., Liang, Q., Wilkins, B.J., Dai, Y.S., Parsons, S., Braunwart, J., Glascock, B.J., Klevitsky, R., Kimball, T.F., Hewett, T.E., Molkentin, J.D. J. Clin. Invest. (2003) [Pubmed]
  31. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. Vasconcelos, O., Sivakumar, K., Dalakas, M.C., Quezado, M., Nagle, J., Leon-Monzon, M., Dubnick, M., Gajdusek, D.C., Goldfarb, L.G. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  32. Myosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3. Fielitz, J., Kim, M.S., Shelton, J.M., Latif, S., Spencer, J.A., Glass, D.J., Richardson, J.A., Bassel-Duby, R., Olson, E.N. J. Clin. Invest. (2007) [Pubmed]
  33. Zidovudine myopathy: a distinctive disorder associated with mitochondrial dysfunction. Mhiri, C., Baudrimont, M., Bonne, G., Geny, C., Degoul, F., Marsac, C., Roullet, E., Gherardi, R. Ann. Neurol. (1991) [Pubmed]
  34. Human immunodeficiency virus-associated myopathy: analysis of 11 patients. Simpson, D.M., Bender, A.N. Ann. Neurol. (1988) [Pubmed]
  35. Expression profiling of a hypercontraction-induced myopathy in Drosophila suggests a compensatory cytoskeletal remodeling response. Montana, E.S., Littleton, J.T. J. Biol. Chem. (2006) [Pubmed]
  36. Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. Arbustini, E., Morbini, P., Grasso, M., Fasani, R., Verga, L., Bellini, O., Dal Bello, B., Campana, C., Piccolo, G., Febo, O., Opasich, C., Gavazzi, A., Ferrans, V.J. J. Am. Coll. Cardiol. (1998) [Pubmed]
  37. Acute myopathy in a type 2 diabetic patient on combination therapy with metformin, fenofibrate and rosiglitazone. Ledl, M., Hohenecker, J., Francesconi, C., Roots, I., Bauer, M.F., Roden, M. Diabetologia (2005) [Pubmed]
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