Table 2 of
Hudson, Mol Vis 2007;
13:2339-2343.Table 2 of
Hudson, Mol Vis 2007;
13:2339-2343.
Table 2. Comparison of X-inactivation ratios in high and low penetrance Leber hereditary optic neuropathy families harboring the 14484T>C and 11778G>A Leber hereditary optic neuropathy mtDNA mutations.
Frequency of different degrees of X-skewing in high and low penetrance Leber hereditary optic neuropathy (LHON) families harboring the 14484T>C and 11778G>A LHON mtDNA mutations. There was no significant difference between the different groups.
High penetrance Low penetrance
--------------------- ---------------------
14484T>C and 1778G>A 14484T>C and 1778G>A
belonging to not belonging to
mtDNA haplogroup J mtDNA haplogroup J
--------------------- ---------------------
X-inactivation ratio Affected Unaffected p Affected Unaffected p
-------------------- -------- ---------- ---- -------- ---------- ----
<30:70 or >70:30 2 11 0.71 12 28 0.24
<20:80 or >80:20 2 10 1.0 7 17 0.31
<10:90 or >10:90 0 7 0.32 4 6 0.18
<5:95 or >9:95 0 2 1.0 0 4 0.57
Total 10 38 24 78
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