A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency that frequently leads to severe mitochondrial disease syndrome. CoQ10 is exce...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2022-06-01
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| Edice: | Molecular Genetics and Metabolism Reports |
| Témata: | |
| On-line přístup: | http://www.sciencedirect.com/science/article/pii/S2214426922000374 |
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