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Gerstmann-Sträussler-Scheinker disease with atypical presentation
We describe a 37-year-old woman who presented with progressive deafness, visual loss and ataxia. She latterly developed neuropsychiatric problems, including cognitive impairment, paranoid delusions and episodes of altered consciousness. She was found to be heterozygous for the Q212P mutation in the...
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| Publicado en: | BMJ Case Rep |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5695393/ https://ncbi.nlm.nih.gov/pubmed/29092967 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-220907 |
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