摘要

<正>Vanishing white matter(VWM)disease–a disease of the cytosolic translation machinery:VWM is a recessive genetic neurodegenerative disease caused by mutations in any of the five genes encoding the subunits of translation initiation factor 2B(e IF2B)(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

  • 出版日期2017-10