一个反复出现的情况

Julia Macintosh1,2, Isabelle Thiffault3,4,5, Tomi Pastinen3,4,6

  • 1Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

PubMed
概括

新的研究确定了EIF2AK2基因中的新变异作为白细胞脑病变的原因. 这种遗传性疾病在婴儿期呈现出类似于Pelizaeus-Merzbacher病 (PMD) 的症状.

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