Advanced search
Publication Cover
International Journal of Neuroscience Volume 113, 2003 - Issue 6
Submit an article Journal homepage
32
Views
1
CrossRef citations to date
0
Altmetric
Research Article

Clinical Case Study: CONNEXIN 32 MUTATION IN A TURKISH FAMILY WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE

NILUFER SAHIN BlackSea Technical University, Medical School, Department of Medical Biology, Trabzon, Turkey
,
MELIHA TAN Baskent University, Medical School, Department of Neurology, Adana, Turkey
,
ERSAN KALAY BlackSea Technical University, Medical School, Department of Medical Biology, Trabzon, Turkey
,
MUSTAFA CALAPOGLU BlackSea Technical University, Department of Biochemistry, Trabzon, Turkey
&
AHMET KARAGUZEL BlackSea Technical University, Department of Medical Biology, Trabzon, Turkey
Pages 777-785 | Published online: 07 Jul 2009

  • Bahr, M., Andres, F., Timmerman, V., Nelis, M. E, Van Broeckhoven, C., & Dichgans J. (1999). Central visual, acoustic, and motor pathway involvement in a Charcot-MarieTooth family with an Asn2O5Ser mutation in the connexin 32 gene. Journal of Neurologv Neurosurgery ami Psychiatry, 66, 202-206.
  • Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. O., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., & Fischbeck, K. H. (1993). Connexin mutations in Xlinked Charcot-Marie-Tooth Disease. Science, 262, 2039-2041.
  • Bissar-Tadmouri, N., Parman, Y., Boutrand, L., Deymeer, F., Serdaroglu, P., Vandenberghe, A., & Battaloglu, E. (2000). Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth type 1 and HNPP patients. Clinical Genetics, 58. 396-402.
  • Halpern, D. F., & Tan, U. (2001). Stereotypes and steroids: Using a psychobiosocial model to understand cognitive sex differences. Brain and Cognition, 45, 392-414.
  • Ionasescu, V., Ionasescu, R., & Searby, C. (1996a). Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. American Journal of Medical Genetics, 63, 486-491.
  • Ionasescu, V. V., Searby, C., Ionasescu, R., Neuhaus, I. M., & Werner, R. (I996b). Mutations of the noncoding region of the connexin32 gene in X-linked dominant CharcotMarie-Tooth neuropathy. Neurology, 47, 541-544.
  • Janssen, E. A., Kemp. S., Hensels, G. W., Sie, O. G., de Die-Smulders, C. E., Hoogendijk, J. E., de Visser, M., & Bolhuis, P. A. (1997). Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTXl). Human Genetics, 99, 505-515.
  • Marques, W., Sweeney, M. G., Wood, N. W., & Wroe, S. J. (1999). Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. Journal of Neurology Neurosurgery and Psychiatry, 66, 801-808.
  • Nicholson, G. A., Yeung, L., & Corbett, A. (1998). Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth. families. Neurology, 51, 1412-1416.
  • Niewiadomski, L. A., & Kelly, T. E. (1996). X-linked Charcot-Marie-Tooth Disease: Molecular analysis of interfamilial variability. American Journal of Medical Genetics, 66, 175-178.
  • Panas, M., Karadimas, C., Avramopoulos, D., & Vassilopoulos, D. (1998). Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations. Journal of Neurology Neurosurgery and Psychiatry, 65, 947-948.
  • Ressot, C., Latour, P., Blanquet-Grossard, F., Sturtz, R, Duthel, S., Battin, J., Corbillon, E., Ollagnon, E., Serville, F., Vandenberghe, A., Dautigny, A., & Pham-Dinh, D. (1996). X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): New mutations in the connexin32 gene. Human Genetics, 98, 172-175.
  • Rouger, H., LeGuern, E., Birouk, N., Gouider, R., Tardieu, S., Plassart E., Gugenheim, M., Vallat, J. M., Louboutin, J. P., Bouche, P., Agid, Y., & Brice, A. (1997). Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 Cx32 mutations in 35 families. Human Mutation, 10, 443-452.
  • Tan, U. (1993). Association of serum-free-testosterone level with hand preference in righthanded young females. International Journal of Neuroscience, 68, 157-163.
  • Tan, U., & Zor, N. (1993). Sex-dependent relations of grasp-reflex strengths from right and left hands to serum gonadotropin (FSH and LH) levels in human neonates with regard to cerebral lateralization. International Journal of Neuroscience, 73, 221-226.
  • Tan, U., & Tan, M. (1998). Curvelinear correlations between total testosterone levels and fluid intelligence in men and women. International Journal of Neuroscience, 95, 77-83.
  • Tan, U., Akgun, A., Telatar, M. (1993). Relationships among nonverbal intelligence, hand speed, and serum testosterone level in left-handed male subjects. International Journal of Neuroscience, 71, 21-28.
  • Tan, U., Pence, S., & Tan, M. (1998). The prenatal attenuation of brain & body development through interactions between growth hormone, triiodothyronine and testosterone during prenatal development of female neonates. International Journal of Neuroscience, 95, 237-245.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.