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Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

OBJECTIVE: To identify the cause of cervical dopa-responsive dystonia (DRD) in a Muslim Indian family inherited in an apparently autosomal recessive fashion, as previously described in this journal. METHODS: Previous testing for mutations in the genes known to cause DRD (GCH1, TH, and SPR) had been...

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Detalhes bibliográficos
Main Authors: Charlesworth, Gavin, Mohire, Mahavir D., Schneider, Susanne A., Stamelou, Maria, Wood, Nicholas W., Bhatia, Kailash P.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3795596/
https://ncbi.nlm.nih.gov/pubmed/23946315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a55fa2
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