Article
The ovarioleukodystrophy.
Clinical neurology and neurosurgery - 1 Dec 2008
Mathis Stéphane, Scheper Gert C, Baumann Nicole, Petit Elodie, Gil Roger, van der Knaap Marjo S, Neau Jean-Philippe
Abstract excerpt
The "ovarioleukodystrophies" comprise a group of rare leukodystrophies associated with primary or premature ovarian failure. Some of the patients have a variant of "vanishing white matter disease" with mutations in subunits of eukaryotic initiation factor 2B (EIF2B). A 32-year-old woman who developed neurological signs related to an extensive leukoencephalopathy on magnetic resonance imaging (MRI) in the context...
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