Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy

BACKGROUND AND OBJECTIVES: Coenzyme Q(10) (CoQ(10)) is an important electron carrier and antioxidant. The COQ7 enzyme catalyzes the hydroxylation of 5-demethoxyubiquinone-10 (DMQ(10)), the second-to-last step in the CoQ(10) biosynthesis pathway. We report a consanguineous family presenting with a he...

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Detalles Bibliográficos
Autores principales: Smith, Ian C., Pileggi, Chantal A., Wang, Ying, Kernohan, Kristin, Hartley, Taila, McMillan, Hugh J., Sampaio, Marcos Loreto, Melkus, Gerd, Woulfe, John, Parmar, Gaganvir, Bourque, Pierre R., Breiner, Ari, Zwicker, Jocelyn, Pringle, C. Elizabeth, Jarinova, Olga, Lochmüller, Hanns, Dyment, David A., Brais, Bernard, Boycott, Kym M., Hekimi, Siegfried, Harper, Mary-Ellen, Warman-Chardon, Jodi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108386/
https://www.ncbi.nlm.nih.gov/pubmed/37077559
http://dx.doi.org/10.1212/NXG.0000000000200048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108386/
https://www.ncbi.nlm.nih.gov/pubmed/37077559
http://dx.doi.org/10.1212/NXG.0000000000200048

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