Fig 1: Effects of the GFM1 mutations on mRNA variants and oxidative phosphorylation complex protein expression levels in the liver and kidney tissues from the index patient. (A) The representative results of Sanger sequencing using reverse transcription PCR amplification products showing GFM1 mRNA variants in the liver and kidney tissues of the control and the index patient. (B) Western blot analysis of whole cell extracts from the liver and kidney tissues from the index patient and the control. In the index patient, decreased levels of NDUFA13 and ATP5A were observed in the liver and decreased expression of ATP5A was identified in the kidney. SDHB and GAPDH were used as loading controls. GFM1, G elongation factor mitochondrial 1; NDUFA13, NADH: ubiquinone oxidoreductase subunit A13; SDHB, succinate dehydrogenase complex iron sulfur subunit B; UQCRC2, ubiquinol-cytochrome c reductase core protein 2; ATP5A, ATP synthase peripheral stalk subunit F6.