Abstract
The ε-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the ε-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that ε-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.
Original language | English |
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Pages (from-to) | 1047-1051 |
Number of pages | 5 |
Journal | Movement Disorders |
Volume | 18 |
Issue number | 9 |
DOIs | |
Publication status | Published - Sep 1 2003 |
Keywords
- ε-sarcoglycan
- Dystonia
- Genetic heterogeneity
- Myoclonus
- Myoclonus-dystonia syndrome
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)