Activity levels of OXPHOS enzymes in the patients’ samples
| Tissue | Complex I | Complex II | Complex II+III | Complex IV | Complex V | Citrate synthase |
|---|---|---|---|---|---|---|
| Specific activities are expressed as nmoles of substrate/min/mg protein; control values as median (percentile 5–95). | ||||||
| Skeletal muscle (mitochondria) | ||||||
| Patient 1 | 134 | 131 | 139 | 541 | 119 | 1011 |
| Patient 2 | 56 | 225 | 200 | 486 | 42 | 471 |
| Controls (n = 30) | 115 (39–294) | 121 (72–338) | 192 (81–334) | 939 (491–1888) | 209 (97–754) | 1279 (687–2014) |
| Liver (mitochondria) | ||||||
| Patient 1 | 42 | 245 | 218 | 150 | 30 | 201 |
| Controls (n = 30) | 53 (18–81) | 194 (87–431) | 190 (112–289) | 364 (239–418) | 87 (35–108) | 223 (187–359) |