Research Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
Table 1
Enzymatic activity of the OXPHOS complexes in muscle and fibroblasts.
| | Muscle | Fibroblasts | | Mean | M1 | M2 | Control range | Patient | Control range |
| | Citrate synthase | 140 | 140 | 139 | (166–311) | 210 | (225–459) | | Complex I | 9 | 10 | 8 | (30–84) | 20 | (18–53) | | Complex I + III | 30 | 30 | 30 | (27–58) | 152 | (73–220) | | Complex II | 38 | 40 | 36 | (53–102) | 74 | (64–124) | | Complex II + III | 34 | 31 | 36 | (41–84) | 125 | (79–219) | | Complex III | 111 | 108 | 115 | (230–486) | 555 | (208–648) | | Complex IV | 233 | 229 | 237 | (205–739) | 380 | (175–403) | | Complex V | 79 | 72 | 85 | (78–178) | 92 | (43–190) |
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Values are given in mUnits/mg protein. M1 and M2: values of two measurements.
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