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Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene
Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a m...
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| 發表在: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMJ Publishing Group
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6340551/ https://ncbi.nlm.nih.gov/pubmed/30635318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-227755 |
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