Table 1 of
Romero, Mol Vis 2014; 20:334-340.
Table 1. Chilean subjects with Leber hereditary optic neuropathy (LHON). Distribution of mutations and haplogroups in affected patients.
Mutation, frequency of participants (n) | Haplogroup | Families (n) | Affected subjects (n) | Age of symptom onset (yrs) | |
---|---|---|---|---|---|
m.11778G>A | 59 (78.7%) | A2 | 1 | 3 | 47.3 (±4.9) |
B2i2 | 2 | 2 | 5.5 (±3.5) | ||
C1b | 6 | 12 | 17.3 (±8.6) | ||
L1b | 2 | 3 | 31.7 (±9.3) | ||
m.14484T>C | 12 (16.0%) | B2i2 | 1 | 1 | 34.0 |
D1g | 1 | 1 | 27.0 | ||
J2b | 1 | 2 | 18.9 (±1.4) | ||
m.3460G>A, | 4 (5.3%) | B2i2 | 1 | 2 | 12.0 (±2.8) |