Figure 2. Sanger sequencing, conservation, and summary of known ACO2 mutations.

(A) Electropherograms indicating the homozygous ACO2 mutation (affected family members), the heterozygous mutation (both parents and unaffected sibling), and the reference sequence (unaffected, unrelated subject). (B) Amino acid conservation within the ACO2 protein homologs across species. (C) Homozygous (top) and compound heterozygous (bottom) ACO2 mutations identified to date in patients with neurodegenerative phenotypes.