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Sex-Specific Bias and Penetrance of the Primary LHON Mutations
|
No. of Affected |
Penetrance (95% CI) among |
||||
| Mutation | Men | Women | Sex Ratio (95% CI) | Men | Women |
| G3460A | 19 | 11 | 1.73:1 (.78–4.02) | 48.7 (32.4–65.2) | 28.2 (15.0–44.9) |
| G11778A | 41 | 8 | 5.13:1 (2.37–12.66) | 50.6 (39.3–61.9) | 8.5 (3.71–6.1) |
| T14484C | 3 |
0 |
NAa | 37.5 (8.5–75.5) | 0 (0–45.9) |
| Overall | 63 | 19 | 3.32:1 (1.96–5.87) | 49.2 (40.3–58.2) | 13.7 (8.4–20.5) |
NA = Not applicable.
