Figure 4:

A. RT-PCR of RNA from control, patient 3 and patient 3 parents using forward primers in 5’UTR and reverse primers in Exon 3 B. RT-PCR of RNA from control, patient 3 and patient 3 parents using forward primers in 5’UTR and reverse primers in Exon 4. C. qPCR demonstrating normalized mRNA levels for the respective NDUFAF5 exons interrogated. RNA was extracted from patient 3 fibroblasts and age matched control. Beta-Actin was used as an internal standard. Unpaired t-test with unequal variance was performed for statistical analysis, error bars indicate standard deviation.