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Complex I Activities in Patient Fibroblast and Muscle Mitochondria
| Patient | Base Change | Amino Acid Change | Fibroblasta | Musclea |
|---|---|---|---|---|
| Control | - | - | 217 | 241 |
| I-1 | c.229 G→C | G77R | n.d.b | 23 (32%) |
| I-2 | c.229 G→C | G77R | 16 (39%) | 49 (40%) |
| I-3 | c.229 G→C | G77R | n.d.b | n.d.b |
| II-1 | c.365 G→C | R122P | 5 (18%) | 60 (26%) |
| III-1 | c.2 T→C; c.365 G→C | M1T; R122P | 9 (33%) | n.d.b |
NADH:ubiquinone oxidoreducatase activity in nmol/min/mg (percentage of control, normalized to citrate synthase).
Not determined.
