Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

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Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (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. Sarah Camargos et al. Neurol Genet 2018;4:e215 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.