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

Muscle Weakness

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 Muscle Weakness


Psychiatry related information on Muscle Weakness


High impact information on Muscle Weakness

  • The KIF1B heterozygotes have a defect in transporting synaptic vesicle precursors and suffer from progressive muscle weakness similar to human neuropathies [11].
  • An apparently identical deletion in one family gave classical BMD in two brothers (presenting in their teens) and only very mild muscle weakness in their 86-year-old great-great-uncle [12].
  • Five cases of a new disease presented with muscular weakness or cramping after exercise; three of the cases also had an elevated serum creatine phosphokinase [13].
  • In the mouse, a deficiency in both lamin A and lamin C leads to slow growth, muscle weakness, and death by 6 weeks of age [14].
  • In the present study, rabbits immunized with MuSK ectodomain protein manifested MG-like muscle weakness with a reduction of AChR clustering at the NMJs [15].

Chemical compound and disease context of Muscle Weakness

  • Thus muscle weakness in MFS may be caused by a serum factor, likely to be GQ1b antibody, that leads to failure of acetylcholine release from motor nerve terminals [16].
  • Muscle weakness and tenderness together with a rise in serum creatine kinase (C.K.) were noted in five uraemic patients treated with 1-2 g of clofibrate ('Atromid-S') daily [17].
  • These findings indicate that muscle weakness suffered by individuals possessing the I4898T mutation involves a functional uncoupling of sarcolemmal excitation from SR Ca(2+) release, rather than the expression of overactive or leaky SR Ca(2+) release channels [4].
  • Long-chain acyl CoA dehydrogenase deficiency is differentiated from medium-chain acyl CoA dehydrogenase deficiency by younger age at presentation, more profound cardiorespiratory depression, evidence of cardiomyopathy, and sequelae of muscle weakness, hypotonia and developmental delay [18].
  • MRS findings were normal in 2 additional patients who had improved with prednisone treatment and in 1 patient who had no muscle weakness (amyopathic variant of JDM) [19].

Biological context of Muscle Weakness


Anatomical context of Muscle Weakness


Gene context of Muscle Weakness

  • In contrast, inactivation of the CNTF gene leads only to a slight muscle weakness, mainly during adulthood, suggesting that CNTFR binds to a second ligand that is important for development [30].
  • Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity [31].
  • Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M) [32].
  • Hexa -/- mice suffer no obvious behavioral or neurological deficit, while Hexb -/- mice develop a fatal neurodegenerative disease, with spasticity, muscle weakness, rigidity, tremor and ataxia [33].
  • Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness [34].

Analytical, diagnostic and therapeutic context of Muscle Weakness


  1. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Small, K., Iber, J., Warren, S.T. Nat. Genet. (1997) [Pubmed]
  2. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. Roe, C.R., Sweetman, L., Roe, D.S., David, F., Brunengraber, H. J. Clin. Invest. (2002) [Pubmed]
  3. Treatment of vitamin D deficiency due to Crohn's disease with tanning bed ultraviolet B radiation. Koutkia, P., Lu, Z., Chen, T.C., Holick, M.F. Gastroenterology (2001) [Pubmed]
  4. Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Avila, G., O'Brien, J.J., Dirksen, R.T. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  5. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Holt, I.J., Harding, A.E., Petty, R.K., Morgan-Hughes, J.A. Am. J. Hum. Genet. (1990) [Pubmed]
  6. Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. Okuda, T., Higashi, Y., Kokame, K., Tanaka, C., Kondoh, H., Miyata, T. Mol. Cell. Biol. (2004) [Pubmed]
  7. Brain metabolism is abnormal in the mdx model of Duchenne muscular dystrophy. Tracey, I., Dunn, J.F., Radda, G.K. Brain (1996) [Pubmed]
  8. Neuroleptic malignant syndrome. Patient with unique clinical and physiologic features. Downey, G.P., Rosenberg, M., Caroff, S., Beck, S., Rosenberg, H., Gerber, J.C., Heiman-Patterson, T.D., Aronson, M.D. Am. J. Med. (1984) [Pubmed]
  9. Serious psychiatric and neurological adverse effects of herbal medicines -- a systematic review. Ernst, E. Acta psychiatrica Scandinavica. (2003) [Pubmed]
  10. Acute ethanol treatment decreases intracellular calcium-ion transients in mouse single skeletal muscle fibres in vitro. Cofán, M., Nicolás, J.M., Fernández-Solà, J., Robert, J., Tobías, E., Sacanella, E., Estruch, R., Urbano-Márquez, A. Alcohol Alcohol. (2000) [Pubmed]
  11. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H.W., Terada, S., Nakata, T., Takei, Y., Saito, M., Tsuji, S., Hayashi, Y., Hirokawa, N. Cell (2001) [Pubmed]
  12. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Forrest, S.M., Cross, G.S., Speer, A., Gardner-Medwin, D., Burn, J., Davies, K.E. Nature (1987) [Pubmed]
  13. Myoadenylate deaminase deficiency: a new disease of muscle. Fishbein, W.N., Armbrustmacher, V.W., Griffin, J.L. Science (1978) [Pubmed]
  14. Prelamin A and lamin A appear to be dispensable in the nuclear lamina. Fong, L.G., Ng, J.K., Lammerding, J., Vickers, T.A., Meta, M., Coté, N., Gavino, B., Qiao, X., Chang, S.Y., Young, S.R., Yang, S.H., Stewart, C.L., Lee, R.T., Bennett, C.F., Bergo, M.O., Young, S.G. J. Clin. Invest. (2006) [Pubmed]
  15. Induction of myasthenia by immunization against muscle-specific kinase. Shigemoto, K., Kubo, S., Maruyama, N., Hato, N., Yamada, H., Jie, C., Kobayashi, N., Mominoki, K., Abe, Y., Ueda, N., Matsuda, S. J. Clin. Invest. (2006) [Pubmed]
  16. Serum factor in Miller-Fisher variant of Guillain-Barré syndrome and neurotransmitter release. Roberts, M., Willison, H., Vincent, A., Newsom-Davis, J. Lancet (1994) [Pubmed]
  17. Clofibrate-induced muscle damage in patients with chronic renal failure. Pierides, A.M., Alvarez-Ude, F., Kerr, D.N. Lancet (1975) [Pubmed]
  18. Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Treem, W.R., Witzleben, C.A., Piccoli, D.A., Stanley, C.A., Hale, D.E., Coates, P.M., Watkins, J.B. Hepatology (1986) [Pubmed]
  19. Muscle abnormalities in juvenile dermatomyositis patients: P-31 magnetic resonance spectroscopy studies. Park, J.H., Niermann, K.J., Ryder, N.M., Nelson, A.E., Das, A., Lawton, A.R., Hernanz-Schulman, M., Olsen, N.J. Arthritis Rheum. (2000) [Pubmed]
  20. Control of the autoimmune response by type 2 nitric oxide synthase. Shi, F.D., Flodström, M., Kim, S.H., Pakala, S., Cleary, M., Ljunggren, H.G., Sarvetnick, N. J. Immunol. (2001) [Pubmed]
  21. Determinant selection in murine experimental autoimmune myasthenia gravis. Effect of the bm12 mutation on T cell recognition of acetylcholine receptor epitopes. Infante, A.J., Thompson, P.A., Krolick, K.A., Wall, K.A. J. Immunol. (1991) [Pubmed]
  22. Predictors and outcomes of scleroderma renal crisis: the high-dose versus low-dose D-penicillamine in early diffuse systemic sclerosis trial. DeMarco, P.J., Weisman, M.H., Seibold, J.R., Furst, D.E., Wong, W.K., Hurwitz, E.L., Mayes, M., White, B., Wigley, F., Barr, W., Moreland, L., Medsger, T.A., Steen, V., Martin, R.W., Collier, D., Weinstein, A., Lally, E., Varga, J., Weiner, S.R., Andrews, B., Abeles, M., Clements, P.J. Arthritis Rheum. (2002) [Pubmed]
  23. The Th2 cytokine IL-4 is not required for the progression of antibody-dependent autoimmune myasthenia gravis. Balasa, B., Deng, C., Lee, J., Christadoss, P., Sarvetnick, N. J. Immunol. (1998) [Pubmed]
  24. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Nagamitsu, S., Matsuura, T., Khajavi, M., Armstrong, R., Gooch, C., Harati, Y., Ashizawa, T. Neurology (2000) [Pubmed]
  25. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Gilbert, J.R., Stajich, J.M., Wall, S., Carter, S.C., Qiu, H., Vance, J.M., Stewart, C.S., Speer, M.C., Pufky, J., Yamaoka, L.H. Am. J. Hum. Genet. (1993) [Pubmed]
  26. Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy. D'Amore, P.A., Brown, R.H., Ku, P.T., Hoffman, E.P., Watanabe, H., Arahata, K., Ishihara, T., Folkman, J. Ann. Neurol. (1994) [Pubmed]
  27. Gallium-67 scintigraphy in macrophagic myofasciitis. Chérin, P., Authier, F.J., Gherardi, R.K., Romero, N., Laforêt, P., Eymard, B., Herson, S., Caillat-Vigneron, N. Arthritis Rheum. (2000) [Pubmed]
  28. Mechanisms of nasal tolerance induction in experimental autoimmune myasthenia gravis: identification of regulatory cells. Shi, F.D., Li, H., Wang, H., Bai, X., van der Meide, P.H., Link, H., Ljunggren, H.G. J. Immunol. (1999) [Pubmed]
  29. Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of skeletal muscle cytoarchitecture. Dalpé, G., Mathieu, M., Comtois, A., Zhu, E., Wasiak, S., De Repentigny, Y., Leclerc, N., Kothary, R. Dev. Biol. (1999) [Pubmed]
  30. The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine. Plun-Favreau, H., Elson, G., Chabbert, M., Froger, J., deLapeyrière, O., Lelièvre, E., Guillet, C., Hermann, J., Gauchat, J.F., Gascan, H., Chevalier, S. EMBO J. (2001) [Pubmed]
  31. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Pan, T.C., Zhang, R.Z., Sudano, D.G., Marie, S.K., Bönnemann, C.G., Chu, M.L. Am. J. Hum. Genet. (2003) [Pubmed]
  32. Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Proks, P., Girard, C., Ashcroft, F.M. Hum. Mol. Genet. (2005) [Pubmed]
  33. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Phaneuf, D., Wakamatsu, N., Huang, J.Q., Borowski, A., Peterson, A.C., Fortunato, S.R., Ritter, G., Igdoura, S.A., Morales, C.R., Benoit, G., Akerman, B.R., Leclerc, D., Hanai, N., Marth, J.D., Trasler, J.M., Gravel, R.A. Hum. Mol. Genet. (1996) [Pubmed]
  34. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Kubisch, C., Schoser, B.G., von Düring, M., Betz, R.C., Goebel, H.H., Zahn, S., Ehrbrecht, A., Aasly, J., Schroers, A., Popovic, N., Lochmüller, H., Schröder, J.M., Brüning, T., Malin, J.P., Fricke, B., Meinck, H.M., Torbergsen, T., Engels, H., Voss, B., Vorgerd, M. Ann. Neurol. (2003) [Pubmed]
  35. Congenital muscular dystrophy and cerebellar atrophy. Echenne, B., Rivier, F., Tardieu, M., Brive, M., Robert, A., Pages, A.M., Pons, F., Mornet, D. Neurology (1998) [Pubmed]
  36. Clinical evaluation of a staphylococcal protein A immunoadsorption system in the treatment of myasthenia gravis patients. Benny, W.B., Sutton, D.M., Oger, J., Bril, V., McAteer, M.J., Rock, G. Transfusion (1999) [Pubmed]
  37. Potentiation of neuromuscular weakness in infant botulism by aminoglycosides. L'Hommedieu, C., Stough, R., Brown, L., Kettrick, R., Polin, R. J. Pediatr. (1979) [Pubmed]
  38. Effects of cyclosporine-a on rat soleus muscle fiber size and phenotype. Zbreski, M.G., Helwig, B.G., Mitchell, K.E., Musch, T.I., Weiss, M.L., McAllister, R.M. Medicine and science in sports and exercise. (2006) [Pubmed]
  39. Skeletal muscle pathology in 2 siblings infected with Toxoplasma gondii. Calore, E.E., Minkovski, R., Khoury, Z., Seguro, A.C., Perez Calore, N.M., Cavaliere, M.J. J. Rheumatol. (2000) [Pubmed]
WikiGenes - Universities