A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.

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

Neurology

journal_title

Neurology

authors

Vidailhet M,Tassin J,Durif F,Nivelon-Chevallier A,Agid Y,Brice A,Dürr A

doi

10.1212/wnl.56.9.1213

subject

Has Abstract

pub_date

2001-05-08 00:00:00

pages

1213-6

issue

9

eissn

0028-3878

issn

1526-632X

journal_volume

56

pub_type

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