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Titolo:
Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity
Autore:
Grimes, DA; Bulman, D; St George-Hyslop, P; Lang, AE;
Indirizzi:
Ottawa Hosp, Dept Med, Div Neurol, Ottawa, ON K1Y 4E9, Canada Ottawa HospOttawa ON Canada K1Y 4E9 v Neurol, Ottawa, ON K1Y 4E9, Canada Univ Ottawa, Ottawa Hosp, Res Inst, Ottawa, ON, Canada Univ Ottawa OttawaON Canada , Ottawa Hosp, Res Inst, Ottawa, ON, Canada Univ Hlth Network, Toronto Western Hosp, Dept Med, Div Neurol, Toronto, ON, Canada Univ Hlth Network Toronto ON Canada Med, Div Neurol, Toronto, ON, Canada Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada Univ Toronto Toronto ON Canada s Neurodegenerat Dis, Toronto, ON, Canada
Titolo Testata:
MOVEMENT DISORDERS
fascicolo: 1, volume: 16, anno: 2001,
pagine: 106 - 110
SICI:
0885-3185(200101)16:1<106:IMESGH>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Keywords:
myoclonus; dystonia; myoclonus-dystonia; D2 dopamine receptor;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Grimes, DA Ottawa Hosp, Dept Med, Div Neurol, Civic Campus,1053 Carling Ave, Ottawa, ON K1Y 4E9, Canada Ottawa Hosp Civic Campus,1053 Carling Ave Ottawa ON Canada K1Y 4E9
Citazione:
D.A. Grimes et al., "Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity", MOVEMENT D, 16(1), 2001, pp. 106-110

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 aregion 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 notcausative of IMD, or that IMD is genetically heterogeneous.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 18:39:31