Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
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- Record sourced from PubMed, PMID 12402271.
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Abstract
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.
Medical subject headings
- Cytoskeletal Proteins
- Dystonia
- Membrane Glycoproteins
- Molecular Chaperones
- Mutation