Figure 2. Clinical identification of incompletely assembled mitochondrial CV from skin fibroblasts. A representative image identifying incomplete assembly of mitochondrial CV from skin fibroblasts.

Assessment of patient mitochondrial enzyme assemblies was performed using in-gel activity staining of hybrid BCN-PAGE. Affirmation of previous diagnostic assessments was conducted on isolated mitochondria from skin fibroblasts of patients and controls (n = 4 per group). Representative image pertains to data from patient 1 and control 1 samples. BCN-PAGE = blue-native and clear-native polyacrylamide gel electrophoresis; CV = complex V.