           参考文献： 1.Sun C , Song J , Jiang Y , et al. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes[J]. Neurology: Genetics, 2019, 5(2). 2.Itoh M, Dai H, Horike S , et al. Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy [J]. Brain, 2019,142(3):560-573. 3.Scheidecker S , Bär S , Stoetzel C , et al. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy[J]. Hum Mutation, 2019；1-5. 4.Zhou X L , He L X , Yu L J , et al. Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism[J]. Human Mutation, 2017,38(12):1740-1750. 5.Ardissone A, Tonduti D, Legati A J , et al. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature[J]. Orphanet J Rare Dis. 2018,13(1):45. 关键词：KARS基因突变相关性白质脑病 |
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