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Titolo:
A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q
Autore:
Vidailhet, M; Tassin, J; Durif, F; Nivelon-Chevallier, A; Agid, Y; Brice, A; Durr, A;
Indirizzi:
Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France Hop La Pitie Salpetriere Paris France 13 U289, F-75651 Paris 13, France Hop La Pitie Salpetriere, Federat Neurol, F-75651 Paris, France Hop La Pitie Salpetriere Paris France F-75651 rol, F-75651 Paris, France Hop St Antoine, Serv Neurol, F-75571 Paris, France Hop St Antoine Paris France F-75571 , Serv Neurol, F-75571 Paris, France Hop Gabriel Montpied, Federat Neurol, Clermont Ferrand, France Hop GabrielMontpied Clermont Ferrand France , Clermont Ferrand, France Hop Enfants Bocage, Ctr Genet, Dijon, France Hop Enfants Bocage Dijon France nfants Bocage, Ctr Genet, Dijon, France
Titolo Testata:
NEUROLOGY
fascicolo: 9, volume: 56, anno: 2001,
pagine: 1213 - 1216
SICI:
0028-3878(20010508)56:9<1213:AMLFSP>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
D2 DOPAMINE-RECEPTOR; LINKAGE ANALYSIS; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Brice, A Hop La Pitie Salpetriere, INSERM U289, 47 Bd Hop, F-75651 Paris 13, France Hop La Pitie Salpetriere 47 Bd Hop Paris France 13 is 13, France
Citazione:
M. Vidailhet et al., "A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q", NEUROLOGY, 56(9), 2001, pp. 1213-1216

Abstract

Myoclonus-dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and alocus on chromosome 7q21-q31. The authors tested linkage to the chromosome7q 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 06:40:12