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Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9
Coenzyme Q(10) (CoQ(10)) has an important role in mitochondrial energy metabolism by way of its functioning as an electron carrier in the respiratory chain. Genetic defects disrupting the endogenous biosynthesis pathway of CoQ(10) may lead to severe metabolic disorders with onset in early childhood....
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| 發表在: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4755375/ https://ncbi.nlm.nih.gov/pubmed/26081641 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.133 |
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