KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
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DOI: 10.1186/s13023-018-0788-4
Abstract: BackgroundKARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated… read more here.
Keywords: brainstem spinal; leukoencephalopathy brainstem; review; brainstem ... See more keywords