Clinical and genetic features of myoclonus-dystonia in 3 cases: A video presentation
- 1 February 2004
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 19 (2) , 231-234
- https://doi.org/10.1002/mds.10635
Abstract
Many cases of myoclonus–dystonia (M‐D) are caused by mutations in the ϵ‐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. © 2003 Movement Disorder SocietyKeywords
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