Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies from severe infantile to chronic, slowly progressive...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial disorders
Aspartyl tRNA synthetase deficiency
Aminoacyl tRNA synthetase deficiency
Leukodystrophy
Splicing mutations
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692300071X

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http://www.sciencedirect.com/science/article/pii/S221442692300071X

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