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COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation
OBJECTIVE: To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8. METHODS: The patient was clinically investigated at 3, 5, 9, and 25 years of age. Brain MRI, repea...
保存先:
| 出版年: | Neurol Genet |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7323480/ https://ncbi.nlm.nih.gov/pubmed/32637636 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000464 |
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