Combined Oxidative Phosphorylation Deficiency 24 (COXPD24)

Combined Oxidative Phosphorylation Deficiency 24, also known as combined oxidative phosphorylation defect type 24, is related to mitochondrial dna depletion syndrome 4a and deafness, autosomal recessive 94, and has symptoms including facial paresis An important gene associated with Combined Oxidative Phosphorylation Deficiency 24 is NARS2 (Asparaginyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Peptide chain elongation and tRNA Aminoacylation. Affiliated tissues include skeletal muscle and liver, and related phenotypes are ragged-red muscle fibers and decreased activity of mitochondrial complex i