Table 4

Biochemical analysis of OXPHOS complexes in muscle biopsy in individuals 44409 and 61606 harbouring MTFMT mutations

OXPHOS complexActivity in muscle (44409)Activity in muscle (61606)
PatientReference rangePatientReference range
CI0.0260.07–0.250.030.14–0.35
CII0.1540.067–0.1770.290.18–0.41
CIII2.8892.50–6.611.481.45–3.76
CIV0.9290.81–3.121.300.91–2.24
CII+CIII0.4160.30–0.970.500.30–0.67
  • Activity values of complexes I, II, III, IV (CI-IV) are given relative to citrate synthase (CS) in mUnit/mUnit CS.

  • Italics and bold indicate abnormal value.

  • NA, not assessed; ND, not detectable; OXPHOS, oxidative phosphorylation.