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Clinical severity of Huntington's disease does not always correlate with neuropathologic stage

✍ Scribed by Jagan A. Pillai; Lawrence A. Hansen; Eliezer Masliah; Jody L. Goldstein; Steven D. Edland; Jody Corey-Bloom


Book ID
112143422
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
87 KB
Volume
27
Category
Article
ISSN
0885-3185

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Autosomal recessive mutations in eukaryotic initiation factor 2B (eIF2B) cause leukoencephalopathy vanishing white matter with a wide clinical spectrum. eIF2B comprises five subunits (Ξ±-Ξ΅; genes EIF2B1, 2, 3, 4 and 5) and is the guanine nucleotide-exchange factor (GEF) for eIF2. It plays a key role