Abstract
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (four of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.
| Original language | English |
|---|---|
| Pages (from-to) | 737-739 |
| Number of pages | 3 |
| Journal | Neurology |
| Volume | 64 |
| Issue number | 4 |
| Publication status | Published - Feb 22 2005 |
ASJC Scopus subject areas
- Neuroscience(all)
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Valente, E. M., Edwards, M. J., Mir, P., DiGiorgio, A., Salvi, S., Davis, M., Russo, N., Bozi, M., Kim, H. T., Pennisi, G., Quinn, N., Dallapiccola, B., & Bhatia, K. P. (2005). The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology, 64(4), 737-739.