Fig. 2.

Western blot analysis of expression of COQ7. In the skin fibroblasts from the p.Arg54Gln COQ7 patient, there is a severe reduction in COQ7 expression, in comparison to the cells from the non-carrier sibling. In addition, the heterozygous sibling's cell also showed lowered COQ7 levels. The level of the COQ biosynthetic enzyme PDSS2 is unchanged in all 3 genotypes. The mitochondrial outer membrane protein porin was used as a loading control. Western blots were cropped to show only relevant bands. Uncropped blots are presented in Supplementary Fig. 1. Western blot quantification was performed using Image J.