Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): Report of a New Family and a Novel DARS2 Mutation
MOLECULAR GENETICS AND METABOLISM REPORTS（2024）
关键词
Mitochondrial disorders,Aspartyl tRNA synthetase deficiency,Aminoacyl tRNA synthetase deficiency,Leukodystrophy,Splicing mutations
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