Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 redefining DYT14 as DYT5

OBJECTIVE: To repor the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linka...

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Detalhes bibliográficos
Main Authors: Wider, C., Melquist, S., Hauf, M., Solida, A., Cobb, S.A., Kachergus, J.M., Gass, J., Coon, K.D., Baker, M., Cannon, A., Stephan, D.A., Schorderet, D.F., Ghika, J., Burkhard, P.R., Kapatos, G., Hutton, M., Farrer, M.J., Wszolek, Z.K., Vingerhoets, F.J.G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2330252/
https://ncbi.nlm.nih.gov/pubmed/17804835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000275527.35752.c5
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