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A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
Coenzyme Q(10) (CoQ(10)) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ(10) is synthesized by all cells and defects in the synthesis pathway result in primary CoQ(10) deficiency that frequently leads to severe mitochondrial disease syndrome. CoQ(1...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248208/ https://www.ncbi.nlm.nih.gov/pubmed/35782625 http://dx.doi.org/10.1016/j.ymgmr.2022.100877 |