| Autor: |
Bienfait, H. M. E., Faber, C. G., Baas, F., Gabreëls-Festen, A. A. W. M., Koelman, J. H. T. M., Hoogendijk, J. E., Verschuuren, J. J., Wokke, J. H. J., de Visser, M. |
| Předmět: |
|
| Zdroj: |
Journal of Neurology, Neurosurgery & Psychiatry; Apr2006, Vol. 77 Issue 4, p534-537, 4p |
| Abstrakt: |
A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
