Article
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
PloS one - 1 Jan 2015
Zhang Haihua, Dai Lifang, Chen Na, Zang Lili, Leng Xuerong, Du Li, Wang Jingmin, Jiang Yuwu, Zhang Feng, Wu Xiru, Wu Ye
Abstract excerpt
Leukoencephalopathy with vanishing white matter (VWM) is one of the most prevalent inherited childhood white matter disorders, which caused by mutations in each of the five subunits of eukaryotic translation initiation factor 2B (EIF2B1-5). In our study, 34 out of the 36 clinically diagnosed children (94%) were identified to have EIF2B1-5 mutations by sequencing. 15 novel mutations were identified. CNVs were not...
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