Case Reports
doi: 10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2.
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
Affiliations
- PMID: 10554001
- DOI: 10.1002/1531-8249(199911)46:5<794::aid-ana19>3.0.co;2-2
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Case Reports
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
Ann Neurol.
1999 Nov.
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.
Comment in
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D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus.Ann Neurol. 2000 Jul;48(1):127-8. doi: 10.1002/1531-8249(200007)48:1<127::aid-ana24>3.3.co;2-4. Ann Neurol. 2000. PMID: 10894231 No abstract available.
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