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...

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Detalles Bibliográficos
Autores principales: Wang, Ying, Gumus, Evren, Hekimi, Siegfried
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
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

Internet

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

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