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MeSH Review

Myotonia Congenita

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Disease relevance of Myotonia Congenita


High impact information on Myotonia Congenita


Chemical compound and disease context of Myotonia Congenita


Biological context of Myotonia Congenita

  • Linkage analysis of Thomsen disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene [4].

Gene context of Myotonia Congenita


  1. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). Steinmeyer, K., Lorenz, C., Pusch, M., Koch, M.C., Jentsch, T.J. EMBO J. (1994) [Pubmed]
  2. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Lorenz, C., Meyer-Kleine, C., Steinmeyer, K., Koch, M.C., Jentsch, T.J. Hum. Mol. Genet. (1994) [Pubmed]
  3. Na+-K+-ATPase is not involved in the warming-up phenomenon in generalized myotonia. Van Beekvelt, M.C., Drost, G., Rongen, G., Stegeman, D.F., Van Engelen, B.G., Zwarts, M.J. Muscle Nerve (2006) [Pubmed]
  4. Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35. Abdalla, J.A., Casley, W.L., Cousin, H.K., Hudson, A.J., Murphy, E.G., Cornélis, F.C., Hashimoto, L., Ebers, G.C. Am. J. Hum. Genet. (1992) [Pubmed]
  5. Evidence of genetic heterogeneity among the nondystrophic myotonias. Ptacek, L.J., Ziter, F.A., Roberts, J.W., Leppert, M.F. Neurology (1992) [Pubmed]
  6. Heterozygote manifestation in recessive generalized myotonia. Becker, P.E. Hum. Genet. (1979) [Pubmed]
  7. Fenoterol precipitating myotonia in a minimally affected case of recessive myotonia congenita. Ricker, K., Haass, A., Glötzner, F. J. Neurol. (1978) [Pubmed]
  8. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. Sasaki, R., Ito, N., Shimamura, M., Murakami, T., Kuzuhara, S., Uchino, M., Uyama, E. Muscle Nerve (2001) [Pubmed]
  9. Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine. Ceccarelli, M., Rossi, B., Siciliano, G., Calevro, L., Tarantino, E. Acta Paediatr. (1992) [Pubmed]
  10. Successful dantrolene sodium treatment of a patient with myotonia congenita (Thomsen's disease). Ohtaki, E., Komori, H., Yamaguchi, Y., Matsuishi, T. Acta paediatrica Japonica; Overseas edition. (1991) [Pubmed]
  11. Possible role of apamin-sensitive K+ channels in myotonic dystrophy. Behrens, M.I., Jalil, P., Serani, A., Vergara, F., Alvarez, O. Muscle Nerve (1994) [Pubmed]
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