| Autor: |
Day, J. W., Ricker, K., Jacobsen, J. F., Rasmussen, L. J., Dick, K. A., Kress, W., Schneider, C., Koch, M. C., Beilman, G. J., Harrison, A. R., Dalton, J. C., Ranum, L. P.W. |
| Zdroj: |
Neurology (Ovid); February 2003, Vol. 60 Issue: 4 p657-664, 8p |
| Abstrakt: |
Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors have characterized the clinical and molecular features of DM2/PROMM, which is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9)gene. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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