Abstract:
:Myoclonus--dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoclonus (n = 1). Age at onset ranged from 0.5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes.
journal_name
Neurologyjournal_title
Neurologyauthors
Vidailhet M,Tassin J,Durif F,Nivelon-Chevallier A,Agid Y,Brice A,Dürr Adoi
10.1212/wnl.56.9.1213subject
Has Abstractpub_date
2001-05-08 00:00:00pages
1213-6issue
9eissn
0028-3878issn
1526-632Xjournal_volume
56pub_type
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