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. 2012 Jul 5;18:1849–1857.

Figure 5.

Figure 5

TMEM126A sequence profiles. A: The proband is homozygote for the mutation c.163C>T (p.Arg55X). B: The father is heterozygote for the mutation. C: The brother presenting transient partial visual loss following exercise (Uhthoff’s phenomenon) is heterozygote for the mutation. D: This unrelated control subject has no mutation.