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MeSH Review

Glycogen Storage Disease Type V

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Disease relevance of Glycogen Storage Disease Type V


High impact information on Glycogen Storage Disease Type V

  • Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease) [6].
  • McArdle's disease is genetically heterogeneous, but the most common mutation is the substitution of thymine for cytosine at codon 49 [6].
  • Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis [7].
  • Intravenous glucose administration increased maximal oxygen uptake about 20% in those with McArdle's disease, but both VO2max and R remained lower than in control subjects [8].
  • Our results show that in McArdle's disease the exerted force is less, the surface EMG (SEMG) amplitude steadily increases, and that the power density spectrum (PDS) shifts to lower frequencies, the latter without significant differences when compared with normals [9].

Chemical compound and disease context of Glycogen Storage Disease Type V


Biological context of Glycogen Storage Disease Type V


Anatomical context of Glycogen Storage Disease Type V


Gene context of Glycogen Storage Disease Type V


Analytical, diagnostic and therapeutic context of Glycogen Storage Disease Type V


  1. Mutation analysis in myophosphorylase deficiency (McArdle's disease). Vorgerd, M., Kubisch, C., Burwinkel, B., Reichmann, H., Mortier, W., Tettenborn, B., Pongratz, D., Lindemuth, R., Tegenthoff, M., Malin, J.P., Kilimann, M.W. Ann. Neurol. (1998) [Pubmed]
  2. A nonischemic forearm exercise test for McArdle disease. Kazemi-Esfarjani, P., Skomorowska, E., Jensen, T.D., Haller, R.G., Vissing, J. Ann. Neurol. (2002) [Pubmed]
  3. Noncardiogenic pulmonary edema and rhabdomyolsis after protamine administration in a patient with unrecognized McArdle's disease. Lobato, E.B., Janelle, G.M., Urdaneta, F., Malias, M.A. Anesthesiology (1999) [Pubmed]
  4. Worsening myopathy associated with ezetimibe in a patient with McArdle disease. Perez-Calvo, J., Civeira-Murillo, F., Cabello, A. QJM : monthly journal of the Association of Physicians. (2005) [Pubmed]
  5. A comparative study on glucagon effect between McArdle disease and Tarui disease. Mineo, I., Kono, N., Shimizu, T., Sumi, S., Nonaka, K., Tarui, S. Muscle Nerve (1984) [Pubmed]
  6. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). Tsujino, S., Shanske, S., DiMauro, S. N. Engl. J. Med. (1993) [Pubmed]
  7. Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis. Gautron, S., Daegelen, D., Mennecier, F., Dubocq, D., Kahn, A., Dreyfus, J.C. J. Clin. Invest. (1987) [Pubmed]
  8. Myophosphorylase deficiency impairs muscle oxidative metabolism. Haller, R.G., Lewis, S.F., Cook, J.D., Blomqvist, C.G. Ann. Neurol. (1985) [Pubmed]
  9. Muscle fatigue in McArdle's disease. Muscle fibre conduction velocity and surface EMG frequency spectrum during ischaemic exercise. Linssen, W.H., Jacobs, M., Stegeman, D.F., Joosten, E.M., Moleman, J. Brain (1990) [Pubmed]
  10. ATP degradation products after ischemic exercise: hereditary lack of phosphorylase or carnitine palmityltransferase. Bertorini, T.E., Shively, V., Taylor, B., Palmieri, G.M., Fox, I.H. Neurology (1985) [Pubmed]
  11. 2,4-Dinitrophenol, muscle biopsy, and McArdle's disease. Heller, S.L., Brooke, M.H., Kaiser, K.K., Choski, R. Neurology (1988) [Pubmed]
  12. Myophosphorylase deficiency: two different molecular etiologies. Feit, H., Brooke, M.H. Neurology (1976) [Pubmed]
  13. Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. Vissing, J., Quistorff, B., Haller, R.G. Arch. Neurol. (2005) [Pubmed]
  14. Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study. Vorgerd, M., Zange, J., Kley, R., Grehl, T., Hüsing, A., Jäger, M., Müller, K., Schröder, R., Mortier, W., Fabian, K., Malin, J.P., Luttmann, A. Arch. Neurol. (2002) [Pubmed]
  15. Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Tsujino, S., Shanske, S., Martinuzzi, A., Heiman-Patterson, T., DiMauro, S. Hum. Mutat. (1995) [Pubmed]
  16. Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease. Iyengar, S., Kalinsky, H., Weiss, S., Korostishevsky, M., Sadeh, M., Zhao, Y., Kidd, K.K., Bonne-Tamir, B. J. Med. Genet. (1997) [Pubmed]
  17. The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease. Vissing, J., MacLean, D.A., Vissing, S.F., Sander, M., Saltin, B., Haller, R.G. J. Physiol. (Lond.) (2001) [Pubmed]
  18. A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. Fernández, R., Navarro, C., Andreu, A.L., Bruno, C., Shanske, S., Gámez, J., Teijeira, S., Hernández, I., Teijeiro, A., Fernández, J.M., Musumeci, O., DiMauro, S. Arch. Neurol. (2000) [Pubmed]
  19. Muscle fatigue in McArdle's disease studied by 31P-NMR: effect of glucose infusion. Lewis, S.F., Haller, R.G., Cook, J.D., Nunnally, R.L. J. Appl. Physiol. (1985) [Pubmed]
  20. Diagnosis of McArdle's disease by molecular genetic analysis of blood. el-Schahawi, M., Tsujino, S., Shanske, S., DiMauro, S. Neurology (1996) [Pubmed]
  21. Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro. Pari, G., Crerar, M.M., Nalbantoglu, J., Shoubridge, E., Jani, A., Tsujino, S., Shanske, S., DiMauro, S., Howell, J.M., Karpati, G. Neurology (1999) [Pubmed]
  22. McArdle's disease diagnosed following statin-induced myositis. Livingstone, C., Al Riyami, S., Wilkins, P., Ferns, G.A. Ann. Clin. Biochem. (2004) [Pubmed]
  23. Peripheral nerve and vasculature involvement in myophosphorylase deficiency (McArdle's disease). Byard, R.W., Lach, B., Preston, D.N. Pathology. (1991) [Pubmed]
  24. Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease. Martín, M.A., Rubio, J.C., García, A., Fernández, M.A., Campos, Y., Krawczak, M., Cooper, D.N., Arenas, J. Clin. Genet. (2001) [Pubmed]
  25. Molecular analysis of Spanish patients with AMP deaminase deficiency. Rubio, J.C., Martín, M.A., Del Hoyo, P., Bautista, J., Campos, Y., Segura, D., Navarro, C., Ricoy, J.R., Cabello, A., Arenas, J. Muscle Nerve (2000) [Pubmed]
  26. McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency. Heller, S.L., Kaiser, K.K., Planer, G.J., Hagberg, J.M., Brooke, M.H. Neurology (1987) [Pubmed]
  27. Localization of the muscle, liver, and brain glycogen phosphorylase genes on linkage maps of mouse chromosomes 19, 12, and 2, respectively. Glaser, T., Matthews, K.E., Hudson, J.W., Seth, P., Housman, D.E., Crerar, M.M. Genomics (1989) [Pubmed]
  28. A splice-site mutation causing ovine McArdle's disease. Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R., Laing, N.G. Neuromuscul. Disord. (1997) [Pubmed]
  29. Reflex sympathetic activation during static exercise is severely impaired in patients with myophosphorylase deficiency. Fadel, P.J., Wang, Z., Tuncel, M., Watanabe, H., Abbas, A., Arbique, D., Vongpatanasin, W., Haley, R.W., Victor, R.G., Thomas, G.D. J. Physiol. (Lond.) (2003) [Pubmed]
  30. A double-blind, placebo-controlled, crossover study of verapamil in exertional muscle pain. Lane, R.J., Turnbull, D.M., Welch, J.L., Walton, J. Muscle Nerve (1986) [Pubmed]
  31. Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine. Sinkeler, S.P., Joosten, E.M., Wevers, R.A., Binkhorst, R.A., Oerlemans, F.T., van Bennekom, C.A., Coerwinkel, M.M., Oei, T.L. Clin. Sci. (1986) [Pubmed]
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