Mutations in the ε- sarcoglycan gene found to be uncommon in seven myoclonus–dystonia families
- 22 July 2003
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 61 (2) , 244-246
- https://doi.org/10.1212/01.wnl.0000073142.40185.c1
Abstract
Myoclonus–dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the ε-sarcoglycan gene (SGCE). The authors have now performed mutation screening in 22 affected individuals from seven families with findings of typical MDS. A novel 5-bp deletion in exon 7 of the gene in one family and the previously reported R102X nonsense mutation in exon 3 in two other families were identified. Mutations in the SGCE gene were found in the minority of families screened in this series.Keywords
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