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MeSH Review

Myasthenic Syndromes, Congenital

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Disease relevance of Myasthenic Syndromes, Congenital


High impact information on Myasthenic Syndromes, Congenital


Chemical compound and disease context of Myasthenic Syndromes, Congenital


Biological context of Myasthenic Syndromes, Congenital


Anatomical context of Myasthenic Syndromes, Congenital


Gene context of Myasthenic Syndromes, Congenital


  1. Impairment of synaptic vesicle exocytosis and recycling during neuromuscular weakness produced in mice by 2,4-dithiobiuret. Xu, Y.F., Autio, D., Rheuben, M.B., Atchison, W.D. J. Neurophysiol. (2002) [Pubmed]
  2. Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Wang, H.L., Milone, M., Ohno, K., Shen, X.M., Tsujino, A., Batocchi, A.P., Tonali, P., Brengman, J., Engel, A.G., Sine, S.M. Nat. Neurosci. (1999) [Pubmed]
  3. Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. Shen, X.M., Ohno, K., Tsujino, A., Brengman, J.M., Gingold, M., Sine, S.M., Engel, A.G. J. Clin. Invest. (2003) [Pubmed]
  4. Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice. Deconinck, A.E., Potter, A.C., Tinsley, J.M., Wood, S.J., Vater, R., Young, C., Metzinger, L., Vincent, A., Slater, C.R., Davies, K.E. J. Cell Biol. (1997) [Pubmed]
  5. Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes. Zhou, M., Engel, A.G., Auerbach, A. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  6. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Donger, C., Krejci, E., Serradell, A.P., Eymard, B., Bon, S., Nicole, S., Chateau, D., Gary, F., Fardeau, M., Massoulié, J., Guicheney, P. Am. J. Hum. Genet. (1998) [Pubmed]
  7. Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR. Ealing, J., Webster, R., Brownlow, S., Abdelgany, A., Oosterhuis, H., Muntoni, F., Vaux, D.J., Vincent, A., Beeson, D. Hum. Mol. Genet. (2002) [Pubmed]
  8. Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. Harper, C.M., Engel, A.G. Ann. Neurol. (1998) [Pubmed]
  9. Congenital myasthenic syndromes. Hantaï, D., Richard, P., Koenig, J., Eymard, B. Curr. Opin. Neurol. (2004) [Pubmed]
  10. Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor. Fukudome, T., Ohno, K., Brengman, J.M., Engel, A.G. Neuroreport (1998) [Pubmed]
  11. Ephedrine in the treatment of congenital myasthenic syndrome. Felice, K.J., Relva, G.M. Muscle Nerve (1996) [Pubmed]
  12. E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Ohno, K., Sadeh, M., Blatt, I., Brengman, J.M., Engel, A.G. Hum. Mol. Genet. (2003) [Pubmed]
  13. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Schmidt, C., Abicht, A., Krampfl, K., Voss, W., Stucka, R., Mildner, G., Petrova, S., Schara, U., Mortier, W., Bufler, J., Huebner, A., Lochmüller, H. Neuromuscul. Disord. (2003) [Pubmed]
  14. Congenital myasthenic syndrome of Brahman cattle in South Africa. Thompson, P.N., Steinlein, O.K., Harper, C.K., Kraner, S., Sieb, J.P., Guthrie, A.J. Vet. Rec. (2003) [Pubmed]
  15. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Gomez, C.M., Maselli, R.A., Vohra, B.P., Navedo, M., Stiles, J.R., Charnet, P., Schott, K., Rojas, L., Keesey, J., Verity, A., Wollmann, R.W., Lasalde-Dominicci, J. Ann. Neurol. (2002) [Pubmed]
  16. Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II. High-conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel-open time. Engel, A.G., Walls, T.J., Nagel, A., Uchitel, O. Prog. Brain Res. (1990) [Pubmed]
  17. Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Harper, C.M., Fukodome, T., Engel, A.G. Neurology (2003) [Pubmed]
  18. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Shapira, Y.A., Sadeh, M.E., Bergtraum, M.P., Tsujino, A., Ohno, K., Shen, X.M., Brengman, J., Edwardson, S., Matoth, I., Engel, A.G. Neurology (2002) [Pubmed]
  19. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. Ohno, K., Milone, M., Shen, X.M., Engel, A.G. Hum. Mol. Genet. (2003) [Pubmed]
  20. Regulation of the rapsyn promoter by kaiso and delta-catenin. Rodova, M., Kelly, K.F., VanSaun, M., Daniel, J.M., Werle, M.J. Mol. Cell. Biol. (2004) [Pubmed]
  21. The synaptic muscle-specific kinase (MuSK) complex: new partners, new functions. Strochlic, L., Cartaud, A., Cartaud, J. Bioessays (2005) [Pubmed]
  22. Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity. Dobransky, T., Doherty-Kirby, A., Kim, A.R., Brewer, D., Lajoie, G., Rylett, R.J. J. Biol. Chem. (2004) [Pubmed]
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