Abstract
Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus- dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.
| Original language | English |
|---|---|
| Journal | Annals of Neurology |
| Volume | 46 |
| Issue number | 5 |
| Pages (from-to) | 794-798 |
| Number of pages | 5 |
| ISSN | 0364-5134 |
| DOIs | |
| Publication status | Published - 17.11.1999 |