D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus [4]

Annals of Neurology

Volumn 48, Issue 1, 2000, Pages 127-128

  Dürr, Alexandra ^a   Tassin, Johann ^a   Vidailhet, Marie ^a,b   Durif, Franck ^c   Jedynak, Pierre ^d   Agid, Yves ^a   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d FOCH HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL; CARRIER PROTEIN; DNA; DOPAMINE 2 RECEPTOR; ENZYME; RECEPTOR;

DYSTONIA; GENE; GENE SEQUENCE; HUMAN; LETTER; MISSENSE MUTATION; MYOCLONUS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0343932572     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200007)48:1<127::aid-ana24>3.3.co;2-4     Document Type: Letter

References (4)

1. Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996;11:119-124
2. Klein C, Brin MF, Kramer P, et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci USA 1999;96:5173-5176
3. Itokawa M, Arinami T, Futamura N, et al. A structural polymorphism of human dopamine D2 receptor, D2(Ser311Cys). Biochem Biophys Res Commun 1993;196:1369-1375
4. Nygaard TG, Raymond D, Chen C, et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999;46:794-798