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. 2014 Oct 23;9:158. doi: 10.1186/s13023-014-0158-9

Table 1.

Characteristics of study population

Total population Carriers <50 Years Carriers ≥50 Years
Affected Unaffected Affected Unaffected Affected Unaffected
Mutation type
m.11778G > A (%) 167 (66.0) 190 (68.6) 118 (66.3) 78 (66.7) 16 (80) 60 (67.4)
m.3460G > A (%) 53 (20.9) 49 (17.7) 31 (17.4) 24 (20.5) 4 (20) 12 (13.5)
m.14484 T > C (%) 33 (13.0) 38 (13.7) 29 (16.3) 15 (12.7) 0 (0) 17 (19.1)
Total 253 277 178 117 20 89
Sex N, (%)
Male 194 (76.7) 92 (33.2) 134 (74.9) 32 (27.4) 15 (75.0) 28 (31.5)
Female 59 (23.3) 185 (66.8) 45 (25.1) 85 (72.6) 5 (25.0) 61 (68.5)
Male/Female ratio 3.3 0.5 3.0 0.37 3.0 0.46
Mean disease duration 15.9 (16.16) 10.71 (10.47) 10.5 (19.12)
VF-14 score (SD) 25.1 (20.8) 97.3 (7.1) 25.14 (21.18) 98.01 (5.22) 18.06 (15.27) 96.45 (8.91)