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Supp. Figure S1. Analysis of C19orf12 gene in SPG43. (A) Representative electropherograms derived from C19orf12 sequencing of genomic DNA for patients compared to a parent and control (nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence).

Supp. Figure S2. Brain MRI images of Brazilian NBIA subjects with the homozygous C19orf12 mutation c.187G>C, p.Ala63Pro. The white arrow indicates iron deposition.

Supp. Figure S3. Recombinant C19orf12 also partially localizes to mitochondria. (A and B) COS7 cells expressing Myc-tagged wild-type (A) or p.Ala63Pro mutant C19orf12 (B) were co-stained for the endogenous mitochondrial protein TOM20 (red) and Myc-epitope (green). Merged images are to the right, with DAPI nuclear staining in blue. Boxed insets in panel A are enlarged in the panels below. Bars, 20 μm.

Supp. Table S1. Single nucleotide polymorphism distribution around the C19orf12 locus showing that the Malian and Brazilian subjects share the same haplotype

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