Fig. 2

Novel frameshift mutation in MT-CO2 alters and truncates the C-terminus of COX2. a The deletion m.8156delG was found in the proband, but not in the asymptomatic mother or siblings, suggesting that the mutation had arisen de novo. b The deletion was found in three tissues of the proband. c The mutation alters the amino acid sequence of the C-terminus of COX2 beyond amino acid 190 and creates a stop codon at position 211