Table 4 COQ level in the skin fibroblasts in patients with COQ4 mutation

From: Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Patient

Tissue

COQ level

CI

CI+III

CII

CII+III

CIII

CIV

1

Skin fibroblast

0.4 pmol/U COX (1.64–3.32)

Normal

Not done

Normal

130 mU/U COX (269–781)

Normal

Normal

6

Skin fibroblast

0.63 pmol/U CS (1.04–2.92)

Normal

Not done

Normal

183 mU/U COX (269–781)

Normal

Normal

7

Skin fibroblast

0.4 pmol/UCOX (1.64–3.32)

Not done

Not done

Normal

183 mU/UCOX (269–781)

Normal

Not done

8

Muscle

191 pmol/mg (140–580)

Normal

Not done

Normal

Not done

Normal

Normal

Skin fibroblast

0.29 nmol/UCOX (1.64–3.32)

Normal

Not done

Normal

135 mU/U COX (control 269–781 in the skin)

Normal

Normal

9

Skin fibroblast

16.4 ng/mg prot (46.1 ± 3)

Not done

64% of CS

90% of CS

55% of CS

Not done

67% of CS

  1. Reference values are given in brackets. Experiment performed at the Radboud University Medical Centre, Nijmegen and the National Taiwan University Hospital
  2. CI complex I, CII complex II, CIII complex III, CIV complex IV, CS citrate synthase
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