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 |
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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)