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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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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Keuss, Sarah E, Ironside, James W, O’Riordan, Jonathan
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2017
Matèries:
Accés en línia: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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