Article
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
Annals of neurology - 1 Feb 2002
van der Knaap Marjo S, Leegwater Peter A J, Könst Andrea A M, Visser Allerdien, Naidu Sakkubai, Oudejans Cees B M, Schutgens Ruud B H, Pronk Jan C
Abstract excerpt
Leukoencephalopathy with vanishing white matter is a recently defined autosomal recessive disorder. The course is chronic progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. A previous study showed that mutations in the genes encoding the epsilon- or the beta-subunit of the eukaryotic translation initiation factor eIF2B, a complex consisting of five subunits,...
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