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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2013
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| 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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