Article
Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults.
Neurology - 11 May 2004
van der Knaap M S, Leegwater P A J, van Berkel C G M, Brenner C, Storey E, Di Rocco M, Salvi F, Pronk J C
Abstract excerpt
Vanishing white matter is a leukoencephalopathy that usually affects young children. Five genes were found recently for this disease, allowing a DNA-based diagnosis. The authors describe six patients homozygous for the Arg113His mutation in eIF2Bepsilon. Only one had a childhood onset; four had a later onset and a protracted disease course; one adult still has no symptoms. Our data suggest that the Arg113His...
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