A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

Biochemical and Biophysical Research Communications

Volumn 222, Issue 1, 1996, Pages 107-110

  Ikegami, Tohru ^a   Nicholson, Garth ^b   Ikeda, Hiroyuki ^a   Ishida, Akihiro ^a   Johnston, Heather ^b   Wise, Grahame ^b   Ouvrier, Robert ^b   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE DELETION; GENE DOSAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MYELINATION; NERVE CONDUCTION; PRIORITY JOURNAL;

EID: 0029880857     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1996.0705     Document Type: Article

References (20)

1. Chance, P. F., and Reilly, M. (1994) Current Opinion Neurol. 7, 367-371.
2. Bird, T. D., Ott, J., and Giblett, E. R. (1982) Am. J. hum. Genet. 34, 388-394.
3. Vance, J. M., Nicholson, G. A., Yamaoka, L. H., Stajich, J., Stewart, C. S., Speer, M. C., Hung, W.-Y., Roses, A. D., Barker, D. F., and Pericak-Vance, M. A. (1989) Exp. Neurol. 104, 186-189.
4. Gal, A., Mucke, J., Theile, H., Wieacker, P. F., Ropers, H.-H., and Wienker, T. F. (1985) Hum. Genet. 70, 38-42.
5. Patel, P. I., and Lupski, J. R. (1994) Trends Genet. 10, 128-133.
6. Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreëls-Festen, A. A. W. M., de Visser, M., and Bolhuis, P. A. (1992) Nature Genet. 2, 288-291.
7. Hayasaka, K., Himoro, M., Sato, W., Takada, G., Uyemura, K., Shimizu, N., Bird, T. D., Conneally, P. M., and Chance, P. F. (1993) Nature Genet. 5, 31-34.
8. Kulkens, T., Bolhuis, P. A., Wolterman, R. A., Kemp, S., teNijenhuis, S., Valentijn, L. J., Hensels, G. W., Jennekens, F. G., de Visser, M., Hoogendijk, J. E., and Baas, F. (1993) Nature Genet. 5, 35-39.
9. Hayasaka, K., Takada, G., and Ionasescu, V. V. (1993) Hum. Molec. Genet. 2, 1369-1372.
10. Bergoffen, J., Scherer, S. S., Wang, S., Oronzi Scott, M., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., and Fischbeck, K. H. (1993) Science 262, 2039-2042.
11. Hayasaka, K., Himoro, M., Sawaishi, Y., Nanao, K., Takahashi, T., Takada, G., Nicholson, G. A., Ouvrier, R. A., and Tachi, N. (1993) Nature Genet. 5, 266-268.
12. Rautenstrauß, B., Nelis, E., Grehl, H., Pfeiffer, R. A., and Van Broeckhoven, C. (1994) Hum. Molec. Genet. 3, 1701-1702.
13. Valentijn, L. J., Ouvrier, R. A., van den Bosch, N. H., Bolhuis, P. A., Baas, F., and Nicholson, G. A. (1995) Hum. Mut. 5, 76-80.
14. Ionasescu, V. V., Ionasescu, R., Searby, Ch., and Neahring, R. (1995) Neurol. 45, 1766-1767.
15. Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones Jr., H. W., and Bary, J. M. (1977) Proc. natn. Acad. Sci. USA 74, 1245-1249.
16. Newton, C. R., Graham, A., Heptinstall, L. E., Powell, S. J., Summers, C., Kalsheker, N., Smith, J. C., and Markham, A. F. (1989) Nucl. Acids Res. 17, 2503-2516.
17. Lemke, G., Lamar, E., and Patterson, J. (1988) Neuron 1, 73-83.
18. Giese, K. P., Martini, R., Lemke, G., Soriano, P., and Schachner, M. (1992) Cell 71, 565-576.
19. Martini, R., Zielasek, J., Toyka, K. V., Giesel, K. P., and Schachner, M. (1995) Nature Genet. 11, 281-286.
20. Adlkofer, K., Martini, R., Aguzzi, A., Zielasek, J., Toyka, K. V., and Suter, U. (1995) Nature Genet. 11, 274-280.