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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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| Vydáno v: | BMJ Case Rep |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
2017
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| Témata: | |
| On-line přístup: | 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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