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. 2021 Oct 19;108(11):2159–2170. doi: 10.1016/j.ajhg.2021.09.015

Table 4.

Vision loss in offspring of affected women with LHON

Affected mother mutation Males with vision loss/total male offspringa[penetrance] Females with vision loss/total female offspringa[penetrance] Total individuals with vision loss/total offspringa[penetrance]
m.11778G>A 30/87 [34.5%] 10/91 [11%] 40/178 [22%]
m.14484T>C 3/19 [15.8%] 5/21 [23.8%] 8/40 [20%]
m.3460G>A 0/1 [N/A] 1/3 [33.3%] 1/4 [25%]
m.14484T>C/m.4160T>C 15/24 [62.5%] 27/32 [84.4%] 42/56 [75%]
m.14482C>G 1/1 [100%] 1/2 [50%] 2/3 [66.6%]
Total 49/132 [37.1%] 44/149 [29.5%] 93/281 [33.1%]

N/A, not applicable.

a

Only asymptomatic carriers over 25 years of age are included.