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. 2018 Jan 24;4(1):e215. doi: 10.1212/NXG.0000000000000215

Figure. Family pedigree and clinical improvement with riboflavin treatment.

Figure

(A) The proband is marked with an arrow. This is a family member recently studied, while subjects II.8, II.9, II.10, and III.3 were previously described in Arq Neuropsiquiatr 2007;65(1):32–35. Squares represent males, and circles represent females. Black symbols represent affected family members. The proband's mother and father were found to be heterozygous for the SLC52A3 insertion (+/−). The mutation was found in homozygosity in the proband (+/+) and her aunt. (B and C) Proband's interosseal atrophy. (D and E) Improvement in facial weakness and (F and G) tongue atrophy after initiation of 1,800 mg of riboflavin.