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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>C; 28C>T]; [23G>C; 28C>T], (p.[Arg8Pro; Leu10Phe]; [Arg8Pro; Leu10Phe]), and reference sequence GenBank NM_032340.3. (b) UQCC2-sequencing chromatograms of the patient and mother.
