Combined Oxidative Phosphorylation Deficiency 30 (COXPD30)

Combined Oxidative Phosphorylation Deficiency 30, also known as combined oxidative phosphorylation defect type 30, is related to hypotonia and combined oxidative phosphorylation deficiency 6. An important gene associated with Combined Oxidative Phosphorylation Deficiency 30 is TRMT10C (TRNA Methyltransferase 10C, Mitochondrial RNase P Subunit). Affiliated tissues include skeletal muscle and liver, and related phenotypes are failure to thrive and increased serum lactate