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Gene Review

CMTX2  -  Charcot-Marie-Tooth neuropathy, X-linked 2...

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Disease relevance of CMTX2


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Chemical compound and disease context of CMTX2


Biological context of CMTX2


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Analytical, diagnostic and therapeutic context of CMTX2


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  22. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Rogers, T., Chandler, D., Angelicheva, D., Thomas, P.K., Youl, B., Tournev, I., Gergelcheva, V., Kalaydjieva, L. Am. J. Hum. Genet. (2000) [Pubmed]
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  24. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. Xu, W., Shy, M., Kamholz, J., Elferink, L., Xu, G., Lilien, J., Balsamo, J. J. Cell Biol. (2001) [Pubmed]
  25. Linkage localization of X-linked Charcot-Marie-Tooth disease. Bergoffen, J., Trofatter, J., Pericak-Vance, M.A., Haines, J.L., Chance, P.F., Fischbeck, K.H. Am. J. Hum. Genet. (1993) [Pubmed]
  26. Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. Su, Y., Brooks, D.G., Li, L., Lepercq, J., Trofatter, J.A., Ravetch, J.V., Lebo, R.V. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  27. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Shrimpton, A.E., Levinsohn, E.M., Yozawitz, J.M., Packard, D.S., Cady, R.B., Middleton, F.A., Persico, A.M., Hootnick, D.R. Am. J. Hum. Genet. (2004) [Pubmed]
  28. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Sereda, M.W., Meyer zu Hörste, G., Suter, U., Uzma, N., Nave, K.A. Nat. Med. (2003) [Pubmed]
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  30. Dietary essential fatty acids, vitamin E, and Charcot-Marie-Tooth disease. Williams, L.L., O'Dougherty, M.M., Wright, F.S., Bobulski, R.J., Horrocks, L.A. Neurology (1986) [Pubmed]
  31. Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Marco, A., Cuesta, A., Pedrola, L., Palau, F., Marín, I. Mol. Biol. Evol. (2004) [Pubmed]
  32. Uneventful administration of cisplatin to a man with X-linked Charcot-Marie-Tooth disease (CMT). Cowie, F., Barrett, A. Ann. Oncol. (2001) [Pubmed]
  33. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Kim, S.A., Vacratsis, P.O., Firestein, R., Cleary, M.L., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  34. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. Robinson, F.L., Dixon, J.E. J. Biol. Chem. (2005) [Pubmed]
  35. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim, S.A., Taylor, G.S., Torgersen, K.M., Dixon, J.E. J. Biol. Chem. (2002) [Pubmed]
  36. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Latour, P., Blanquet, F., Nelis, E., Bonnebouche, C., Chapon, F., Diraison, P., Ollagnon, E., Dautigny, A., Pham-Dinh, D., Chazot, G. Hum. Mutat. (1995) [Pubmed]
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  38. An animal model for Charcot-Marie-Tooth disease type 4B1. Bonneick, S., Boentert, M., Berger, P., Atanasoski, S., Mantei, N., Wessig, C., Toyka, K.V., Young, P., Suter, U. Hum. Mol. Genet. (2005) [Pubmed]
  39. Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Perez-Olle, R., Jones, S.T., Liem, R.K. Hum. Mol. Genet. (2004) [Pubmed]
  40. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Yoshikawa, H., Nishimura, T., Nakatsuji, Y., Fujimura, H., Himoro, M., Hayasaka, K., Sakoda, S., Yanagihara, T. Ann. Neurol. (1994) [Pubmed]
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  42. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Saito, M., Hayashi, Y., Suzuki, T., Tanaka, H., Hozumi, I., Tsuji, S. Neurology (1997) [Pubmed]
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