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

Myotonic Disorders

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 Myotonic Disorders


Psychiatry related information on Myotonic Disorders

  • Here, we describe the phenotype and the histological features in muscle and brain of the first large pedigree with a non-myotonic dystrophy type 1 (DM1) non-DM2 multisystem myotonic disorder associated with severe frontotemporal dementia [5].

High impact information on Myotonic Disorders


Chemical compound and disease context of Myotonic Disorders


Biological context of Myotonic Disorders


Gene context of Myotonic Disorders


Analytical, diagnostic and therapeutic context of Myotonic Disorders


  1. Acetazolamide-induced weakness in paramyotonia congenita. Riggs, J.E., Griggs, R.C., Moxley, R.T. Ann. Intern. Med. (1977) [Pubmed]
  2. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. McClatchey, A.I., Trofatter, J., McKenna-Yasek, D., Raskind, W., Bird, T., Pericak-Vance, M., Gilchrist, J., Arahata, K., Radosavljevic, D., Worthen, H.G. Am. J. Hum. Genet. (1992) [Pubmed]
  3. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Arikawa-Hirasawa, E., Le, A.H., Nishino, I., Nonaka, I., Ho, N.C., Francomano, C.A., Govindraj, P., Hassell, J.R., Devaney, J.M., Spranger, J., Stevenson, R.E., Iannaccone, S., Dalakas, M.C., Yamada, Y. Am. J. Hum. Genet. (2002) [Pubmed]
  4. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Ricker, K., Koch, M.C., Lehmann-Horn, F., Pongratz, D., Speich, N., Reiners, K., Schneider, C., Moxley, R.T. Arch. Neurol. (1995) [Pubmed]
  5. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Le Ber, I., Martinez, M., Campion, D., Laquerrière, A., Bétard, C., Bassez, G., Girard, C., Saugier-Veber, P., Raux, G., Sergeant, N., Magnier, P., Maisonobe, T., Eymard, B., Duyckaerts, C., Delacourte, A., Frebourg, T., Hannequin, D. Brain (2004) [Pubmed]
  6. Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Chahine, M., George, A.L., Zhou, M., Ji, S., Sun, W., Barchi, R.L., Horn, R. Neuron (1994) [Pubmed]
  7. Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis. Ricker, K., Böhlen, R., Rohkamm, R. Neurology (1983) [Pubmed]
  8. Musculoskeletal pain in patients with myotonic dystrophy type 2. George, A., Schneider-Gold, C., Zier, S., Reiners, K., Sommer, C. Arch. Neurol. (2004) [Pubmed]
  9. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. Bendahhou, S., Cummins, T.R., Kwiecinski, H., Waxman, S.G., Ptácek, L.J. J. Physiol. (Lond.) (1999) [Pubmed]
  10. Successuful treatment of paramyotonia congenita (Eulenburg): muscle stiffness and weakness prevented by tocainide. Ricker, K., Haass, A., Rüdel, R., Böhlen, R., Mertens, H.G. J. Neurol. Neurosurg. Psychiatr. (1980) [Pubmed]
  11. Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis. Weckbecker, K., Würz, A., Mohammadi, B., Mansuroglu, T., George, A.L., Lerche, H., Dengler, R., Lehmann-Horn, F., Mitrovic, N. Neuromuscul. Disord. (2000) [Pubmed]
  12. The anesthetic propofol modulates gating in paramyotonia congenita mutant muscle sodium channels. Haeseler, G., Störmer, M., Mohammadi, B., Bufler, J., Dengler, R., Piepenbrock, S., Leuwer, M. Muscle Nerve (2001) [Pubmed]
  13. Muscle stiffness and electrical activity in paramyotonia congenita. Ricker, K., Rüdel, R., Lehmann-Horn, F., Küther, G. Muscle Nerve (1986) [Pubmed]
  14. The skeletal muscle sodium and chloride channel diseases. Hudson, A.J., Ebers, G.C., Bulman, D.E. Brain (1995) [Pubmed]
  15. Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile). Koch, M.C., Baumbach, K., George, A.L., Ricker, K. Neuroreport (1995) [Pubmed]
  16. Assessment of cardiovascular autonomic function in myotonic dystrophy type 2 (DM2/PROMM). Flachenecker, P., Schneider, C., Cursiefen, S., Ricker, K., Toyka, K.V., Reiners, K. Neuromuscul. Disord. (2003) [Pubmed]
  17. Diseases and disorders of muscle. Pearson, A.M., Young, R.B. Adv. Food Nutr. Res. (1993) [Pubmed]
  18. Clinical and molecular aspects of the myotonic dystrophies: a review. Machuca-Tzili, L., Brook, D., Hilton-Jones, D. Muscle Nerve (2005) [Pubmed]
  19. Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation. Mastaglia, F.L., Harker, N., Phillips, B.A., Day, T.J., Hankey, G.J., Laing, N.G., Fabian, V., Kakulas, B.A. J. Neurol. Neurosurg. Psychiatr. (1998) [Pubmed]
  20. Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM). Schneider, C., Grimm, T., Kress, W., Sommer, C., Müller, C.R. Neuromuscul. Disord. (2000) [Pubmed]
  21. Clinical and genetic heterogeneity in myotonic dystrophies. Meola, G. Muscle Nerve (2000) [Pubmed]
  22. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Day, J.W., Roelofs, R., Leroy, B., Pech, I., Benzow, K., Ranum, L.P. Neuromuscul. Disord. (1999) [Pubmed]
  23. C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data. Borg, K., Ahlberg, G., Anvret, M. Neuromuscul. Disord. (1997) [Pubmed]
WikiGenes - Universities