Models of Epsilon-Sarcoglycan Gene Inactivation and their Implications for the Pathology of Myoclonus Dystonia
Myoclonus Dystonia (MD) is an autosomal dominant movement disorder characterized by bilateral myoclonic jerks paired with dystonia 1. Mutations have been mapped to the ε-sarcoglycan (SGCE) gene in about 40% of patients 2,92. The purpose of this project was to examine the properties of SGCE in the ce...
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| Language: | en |
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2013
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| Online Access: | http://hdl.handle.net/10393/23790 |