Biochemical analysis of OXPHOS complexes in muscle biopsy in individuals 44409 and 61606 harbouring MTFMT mutations
| OXPHOS complex | Activity in muscle (44409) | Activity in muscle (61606) | ||
| Patient | Reference range | Patient | Reference range | |
| CI | 0.026 | 0.07–0.25 | 0.03 | 0.14–0.35 |
| CII | 0.154 | 0.067–0.177 | 0.29 | 0.18–0.41 |
| CIII | 2.889 | 2.50–6.61 | 1.48 | 1.45–3.76 |
| CIV | 0.929 | 0.81–3.12 | 1.30 | 0.91–2.24 |
| CII+CIII | 0.416 | 0.30–0.97 | 0.50 | 0.30–0.67 |
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.