Table 1.

Summary of molecular defects and CoQ10 levels in fibroblasts of patients studied

Cell line	Molecular defect	Gene	CoQ10 (μg/g protein)a	References
Controls (N = 6)			63.14 ± 14
P1	Q167LfsX36 homozygous	ADCK3	36.9 ± 6.5	Lagier‐Tourenne et al (2008)
P2	Q322X, S382L	PDSS2	18.3 ± 1	Lopez et al (2006)
P3	S109N homozygous	COQ2	11.4 ± 0.7	Scalais et al (2013)
P4	A302V homozygous	COQ2	8.5 ± 0.48	Jakobs et al (2013)
P5	R145G homozygous	COQ4	40.8 ± 5.6	Brea‐Calvo (2015)

^aMean ± SD.