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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...

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Detalhes bibliográficos
Publicado no:Case Rep Med
Main Authors: Zaver, Dhillon B., Douthit, Nathan T.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6348877/
https://ncbi.nlm.nih.gov/pubmed/30755773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/2986538
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