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KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
BACKGROUND: KARS 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 clinical phenotype is heterog...
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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5883414/ https://ncbi.nlm.nih.gov/pubmed/29615062 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0788-4 |
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