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. Author manuscript; available in PMC: 2023 Sep 1.
Published in final edited form as: J Inherit Metab Dis. 2022 Jul 11;45(5):996–1012. doi: 10.1002/jimd.12526

Figure 1:

Figure 1:

a-b) Pedigrees showing individuals from families 1 and 2. c) cDNA studies using a muscle sample of the affected individual in family 1 (II.3) showed ATP5PO exon 2 skipping and the presence of residual WT spliced product. Peripheral blood samples of unaffected siblings (II.2, II.1) were used for cDNA studies. d) cDNA studies using blood samples of the members of family 2 (I.1, I.2 (parents), II.2 (unaffected sibling), II.4 (affected) e,f) Photos of affected individuals of family 2 (II.1, II.4) showing high forehead, mildly depressed nasal bridge, bulbous nasal tip, full cheeks, deep philtrum. Additionally, II.4 individual (panel f) shows prominent metopic suture and hypertelorism.