Article
[From gene to disease; a defect in the regulation of protein production leading to vanishing white matter].
Nederlands tijdschrift voor geneeskunde - 12 Oct 2002
Pronk J C, Leegwater P A J, van der Knaap M S
Abstract excerpt
Leukoencephalopathy with vanishing white matter (VWM) is a newly defined autosomal recessive disorder. The clinical course is chronically progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. We recently identified the five genes associated with VWM: EIF2B1-5. They encode the five subunits of eIF2B, which is a eukaryotic translation initiation factor expressed in...
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