<i>COQ8A</i>-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
<i>COQ8A</i>-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy. However, due to variable phenotype, it...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
MDPI AG
2022-10-01
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| Edice: | Metabolites |
| Témata: | |
| On-line přístup: | https://www.mdpi.com/2218-1989/12/10/955 |
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