Article
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.
Annals of neurology - 1 Mar 2000
Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin M F, Ebersole B J, Fink S, Forsgren L, Friedman J, Grimes D, Holmgren G, Kyllerman M, Lang A E, de Leon D, Leung J, Prioleau C, Raymond D, Sanner G, Saunders-Pullman R, Vieregge P, Wahlström J, Breakefield X O, Kramer P L, Ozelius L J, Sealfon S C
Abstract excerpt
A novel Val154-->Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different families did not reveal any mutations, nor was there evidence of linkage to the 11q23 region in the DRD2 gene in four other families. Receptor binding and signal...
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