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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

We report a new family with autosomal dominant inheritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a novel mutation p.R782G in the Colony-Stimulating Factor 1 Receptor gene (CSF1R). Neuropathology of two affected family members showed cerebral white...

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Detalles Bibliográficos
Autores principales:	Foulds, Nicola, Pengelly, Reuben J., Hammans, Simon R., Nicoll, James A. R., Ellison, David W., Ditchfield, Adam, Beck, Sarah, Ennis, Sarah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432561/ https://www.ncbi.nlm.nih.gov/pubmed/25975230 http://dx.doi.org/10.1038/srep10042

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