PMC5733633_01
The genetic testing profile of patients with hereditary optic neuropathy.
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fig1
There was also one case of polymicrogyria with optic nerve hypoplasia (TUBA8 gene mutation, p.Q235R).  Figure 1 shows the disease spectrum.
The mitochondrial DNA mutation profile of patients with LHON.
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Other rare gene mutation sites at 11696, 8344, 3700, and 3635 account for the other 12% of mutations (Figure 2).