10.1371/journal.pgen.1004034.g001 Figure 1  MitoExome sequencing identifies a homozygous mutation in UQCC2 in a patient with complex III deficiency.
(A) The activity of complexes I–IV (CI-IV) as measured by spectrophotometric analysis and normalized to the activity of citrate synthase (CS), expressed as a percentage of control. Values are the average of duplicate assays. (B) Prioritization of single nucleotide variants (SNVs) and small insertion/deletions (indels) identified by MitoExome MPS. (C) Sequence chromatograms of UQCC2 in control and patient gDNA validating the c.214-3C>G mutation detected by MitoExome sequencing.