Myoclonus-dystonia is a movement disorder associated with mutations in the ε-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.
ASJC Scopus subject areas
- Clinical Neurology