Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.
Evidence for progressive changes in clinical presentation of myoclonus-dystonia
✍ Scribed by Stéphane Thobois; Hélène Gervais-Bernard; Jing Xie-Brustolin; Julie Zyss; Karine Ostrowsky; Emmanuel Broussolle
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 46 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0885-3185
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## 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 aut
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