Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype
β Scribed by Ahmed Alsalem; Ranad Shaheen; Fowzan S. Alkuraya
- Book ID
- 116508670
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 477 KB
- Volume
- 496
- Category
- Article
- ISSN
- 0378-1119
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## Abstract 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 th
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