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
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
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DOI: 10.3390/genes15050615
Abstract: Background: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is an inherited disease caused by pathogenic biallelic variants in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. This disease is characterized by slowly… read more here.
Keywords: spinal cord; variant; dars2 gene; leukoencephalopathy brainstem ... See more keywords