Figure 1

Mutations in TTC19 and expression of TTC19. A. Novel and reported Mutations in TTC19 and their phylogenetic conservation. A schematic drawing shows the 10 exons, the mitochondrial targeting sequence (MTS), and the 5 tetratricopeptide repeats (TPR) of TTC19. The previously reported mutations are indicated in black, the two novel missense mutations reported here are highlighted in red. Sequence alignment with different species shows the affected amino acid residues to be highly conserved. B. TTC19 transcript levels in muscle of patients (P) and controls (C). Normal amounts of TTC19 transcripts compared to controls were found in patients 1 and 3 carrying missense mutations (c.971 T > C; p.Leu324Pro and c.554 T > C; p.Leu185Pro). A significant reduction of TTC19 transcripts was observed in patient 2 who carries the stop mutation c.656 T > G (p.Leu219*). A repeated measures ANOVA and a Tukey post test to compare all pairs of columns was used for statistical analysis (**p < 0.01).