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Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia without Leukoencephalopathy
Mutations in the mitochondrial alanyl-tRNA synthetase gene, AARS2, have been reported to cause leukoencephalopathy associated with early ovarian failure, a clinical presentation described as “ovarioleukodystrophy”. We present a sibling pair: one with cerebellar ataxia and one with vision loss and co...
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| Publié dans: | Cerebellum |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6982554/ https://ncbi.nlm.nih.gov/pubmed/31705293 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-019-01080-y |
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