Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

<div>Conservation of affected amino acid residues and enzymatic activities of respiratory chain complexes in the muscle and fibroblasts. (a) Phylogenetic conservation of UQCC2. The two homozygous missense mutation affect highly conserved amino acid residues: c.[23G&gt;C; 28C&gt;T]; [23G&gt;C; 28C&gt;T], (p.[Arg8Pro; Leu10Phe]; [Arg8Pro; Leu10Phe]), and reference sequence GenBank NM_032340.3. (b) UQCC2-sequencing chromatograms of the patient and mother.</div>

Oxidative Medicine and Cellular Longevity

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Figure 1: Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies 

Figure 1 | Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies 