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A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene
The case describes a 25-year-old Caucasian female diagnosed with Alexander's disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomi...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348877/ https://www.ncbi.nlm.nih.gov/pubmed/30755773 http://dx.doi.org/10.1155/2019/2986538 |