Table 2. Quantification of COX-I and NDUFB8 deficiency in two serial skeletal muscle sections from 5 patients.
| Patients | COX-I | NDUFB8 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Pos | Int(+) | Int(−) | Neg | Pos | Int(+) | Int(−) | Neg | n | ||
| P1 (LRPPRC mutations) | Day 1 | 0.2% | 3.8% | 15.3% | 80.7% | 99.8% | 0.2% | 0.0% | 0.0% | 424 |
| Day 2 | 0.2% | 4.5% | 17.3% | 78.0% | 99.6% | 0.3% | 0.1% | 0.0% | 1258 | |
| E (D1–D2) | 0.1% | −0.8% | −2.0% | 2.7% | 0.2% | −0.1% | −0.1% | − | ||
| 95% CI (D1–D2) | −0.4%, 0.6% | −2.9%, 1.4% | −6.0%, 2.0% | −1.7%, 7.1% | −0.4%, 0.7% | −0.6%, 0.5% | −0.2%, 0.1% | − | ||
| P2 (m.4175G > A MT-ND1) | Day 1 | 99.9% | 0.1% | 0.0% | 0.0% | 9.6% | 0.4% | 0.2% | 89.7% | 823 |
| Day 2 | 100.0% | 0.0% | 0.0% | 0.0% | 11.9% | 0.3% | 0.1% | 87.8% | 932 | |
| E (D1–D2) | −0.1% | 0.1% | − | − | −2.3% | 0.2% | 0.1% | 2.0% | ||
| 95% CI (D1–D2) | −0.3%, 0.1% | −0.1%, 0.3% | − | − | −5.0%, 0.5% | −0.4%, 0.7% | −0.2%, 0.5% | −0.8%, 4.8% | ||
| P11(Multiple mtDNA deletions) | Day 1 | 72.8% | 5.3% | 3.2% | 18.7% | 63.4% | 12.4% | 4.7% | 19.6% | 1589 |
| Day 2 | 71.2% | 5.2% | 2.7% | 21.0% | 54.4% | 19.0% | 4.1% | 22.5% | 2400 | |
| E (D1–D2) | 1.7% | 0.1% | 0.5% | −2.3% | 9.0% | −6.6% | 0.6% | −2.9% | ||
| 95% CI (D1–D2) | −1.2%, 4.5% | −1.3%, 1.5% | −0.6%, 1.6% | −4.8%, 0.3% | 5.9%, 12.1% | −8.9%, −4.4% | −0.7%, 1.9% | −5.5%, 0.3% | ||
| P17 (m.5690A>G MT-TN) | Day 1 | 91.5% | 1.0% | 1.2% | 6.2% | 79.6% | 7.1% | 3.3% | 10.0% | 1362 |
| Day 2 | 91.5% | 1.1% | 1.2% | 6.2% | 81.2% | 5.9% | 3.6% | 9.3% | 1512 | |
| E (D1–D2) | 0.0% | −0.1% | 0.1% | 0.0% | −1.6% | 1.2% | −0.3% | 0.7% | ||
| 95% CI (D1–D2) | −2.0%, 2.1% | −0.9%, −0.7% | −0.8%, 0.9% | −1.8%, 1.8% | −4.5%, 1.3% | −0.6%, 3.0% | −1.6%, 1.1% | −1.5%, 2.8% | ||
| P18 (Novel MT-TP mutation) | Day 1 | 0.5% | 1.1% | 2.5% | 95.9% | 0.4% | 0.5% | 4.4% | 94.7% | 1012 |
| Day 2 | 0.4% | 0.9% | 1.6% | 97.0% | 0.2% | 0.4% | 2.2% | 97.2% | 1689 | |
| E (D1–D2) | 0.1% | 0.1% | 0.9% | −1.1% | 0.2% | 0.1% | 2.3% | −2.6% | ||
| 95% CI (D1–D2) | −0.5%, 0.6% | −0.7%, 0.9% | −0.3%, 2.0% | −2.6%, 0.4% | −0.2%, 0.7% | −0.5%, 0.6% | 0.8%, 3.2% | −4.1%, −1.0% | ||
Key: E (D1–D2) = estimate for difference between Day 1 and Day 2; 95% CI (D1-D2) = 95% confidence interval for the difference between Day 1 and Day 2; n = number of fibres quantified; Pos = positive, Int(+) = intermediate positive, Int(−) = intermediate negative, Neg = negative.