Primary CoQ 10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.
Aydan DeğerliyurtNadide Başak GülleroğluAyşe Esin Kibar GülPublished in: The International journal of neuroscience (2022)
instead of the lower doses used in the treatment of mitochondrial disease.