Mitochondrial malfunction in vanishing white matter disease: a disease of the cytosolic translation machinery
Orna Elroy-Stein
摘要：Vanishing white matter (VWM) disease – a disease of the cytosolic translation machinery: VWM is a recessive genet-ic neurodegenerative disease caused by mutations in any of the five genes encoding the subunits of translation initiation factor 2B (eIF2B) (Leegwater et al., 2001; OMIM 306896). This cure-less disease is rare (rough estimation would be around 1:100,000), but the actual prevalence is thought to be limited by its challenging diagnosis.
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资助基金：OES' work was funded by The Legacy Heritage Bio-Med-ical Program of the Israel Science Foundation (grant No. 1629/13)
论文发表日期：2017-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：3( 1610-1612 )