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Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation

OBJECTIVE: To report a novel mutation in the gene EIF2B3 responsible for a late-onset form of vanishing white matter disease. DESIGN: Case report. SETTING: University teaching hospital. PATIENT: A 29-year-old pregnant woman with a history of premature ovarian failure and hemiplegic migraines present...

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Autori principali: La Piana, Roberta, Vanderver, Adeline, van der Knaap, Marjo, Roux, Louise, Tampieri, Donatella, Brais, Bernard, Bernard, Geneviève
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4154510/
https://ncbi.nlm.nih.gov/pubmed/22312164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.1942
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