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Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
Objective: To study a large Canadian family with presumed DRD. Methods: The clinical features of the family were collected before molecular genetic mutational analysis. Results: All nine individuals in whom a clinical diagnosis of DRD was definite or probable were heterozygous for a GCH1 gene deleti...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Group
2002
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1737930/ https://ncbi.nlm.nih.gov/pubmed/12023430 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.72.6.801 |
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