Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity
Identifieur interne : 003003 ( Istex/Checkpoint ); précédent : 003002; suivant : 003004Inherited myoclonus‐dystonia: Evidence supporting genetic heterogeneity
Auteurs : D. A. Grimes [Canada] ; D. Bulman [Canada] ; P. St. George-Hyslop [Canada] ; A. E. Lang [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2001-01.
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- KwdEn :
Abstract
Inherited myoclonus‐dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous. Mov. Disord. 16:106–110, 2001. © 2001 Movement Disorder Society.
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DOI: 10.1002/1531-8257(200101)16:1<106::AID-MDS1022>3.0.CO;2-7
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<front><div type="abstract" xml:lang="en">Inherited myoclonus‐dystonia (IMD) is a new term used to describe an autosomal dominant form of myoclonus. Recently a family with IMD was linked to a region on chromosome 11q23 and a possible mutation identified in the D2 dopamine receptor. We have identified a large family with 12 affected individuals. Using linkage analysis and direct sequencing, the D2 receptor gene was excluded as a cause of myoclonus in this family. These results indicate that the Val154Ile D2 receptor substitution is not the universal cause of IMD. This suggests either that it is a rare, family specific polymorphism not causative of IMD, or that IMD is genetically heterogeneous. Mov. Disord. 16:106–110, 2001. © 2001 Movement Disorder Society.</div>
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