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Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL): Report of a New Family and a Novel DARS2 Mutation

Wei-Lin Huang, Maija R. Steenari,Rebekah Barrick,Mariella T. Simon,Richard Chang,Shaya S. Eftekharian,Alexander Stover,Philip H. Schwartz,Alexandra Latini,Jose E. Abdenur

MOLECULAR GENETICS AND METABOLISM REPORTS（2024）

Cited 0|Views15
Key words
Mitochondrial disorders,Aspartyl tRNA synthetase deficiency,Aminoacyl tRNA synthetase deficiency,Leukodystrophy,Splicing mutations
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