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Titolo:
Inherited myoclonus-dystonia syndrome: Narrowing the 7q21-q31 locus in German families
Autore:
Asmus, F; Zimprich, A; Naumann, M; Berg, D; Bertram, M; Ceballos-Baumann, A; Pruszak-Seel, R; Kabus, C; Dichgans, M; Fuchs, S; Muller-Myhsok, B; Gasser, T;
Indirizzi:
Univ Munich, Klinikum Grosshadern, Neurol Klin, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 Neurol Klin, D-81377 Munich, Germany Univ Wurzburg, Neurol Klin, D-8700 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-8700 rol Klin, D-8700 Wurzburg, Germany Univ Heidelberg, Neurol Klin, Heidelberg, Germany Univ Heidelberg Heidelberg Germany rg, Neurol Klin, Heidelberg, Germany Tech Univ Munich, Neurol Klin, D-8000 Munich, Germany Tech Univ Munich Munich Germany D-8000 urol Klin, D-8000 Munich, Germany Gesundheitsamt Norden, Nordon, Germany Gesundheitsamt Norden Nordon Germany ndheitsamt Norden, Nordon, Germany Humboldt Univ, Neurol Klin, Berlin, Germany Humboldt Univ Berlin Germany umboldt Univ, Neurol Klin, Berlin, Germany Bernhard Nocht Inst Trop Med, Abt Tropenmed Grundlagenforsch, Hamburg, Germany Bernhard Nocht Inst Trop Med Hamburg Germany enforsch, Hamburg, Germany
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 1, volume: 49, anno: 2001,
pagine: 121 - 124
SICI:
0364-5134(200101)49:1<121:IMSNT7>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Gasser, T Univ Munich, Neurol Klin, Marchioninistr 15, D-81377 Munich, Germany Univ Munich Marchioninistr 15 Munich Germany D-81377 h, Germany
Citazione:
F. Asmus et al., "Inherited myoclonus-dystonia syndrome: Narrowing the 7q21-q31 locus in German families", ANN NEUROL, 49(1), 2001, pp. 121-124

Abstract

Genetic studies were performed in four German families with autosomal dominant myoclonus-dystonia syndrome. Mutations in the D2 dopamine receptor gene, which have been implicated in this disorder, were excluded in all four families by linkage analysis and direct sequencing. All four families supported linkage to the second reported locus on chromosome 7q21 with a combinedmaximum multipoint lod score of 5.99. The observation of key recombinations in one family refined the disease locus to a 7.2 cM region flanked by themarkers D7S652 and D7S2480.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 19:18:44