Combined Oxidative Phosphorylation Deficiency 17 (COXPD17)

Combined Oxidative Phosphorylation Deficiency 17, also known as coxpd17, is related to combined oxidative phosphorylation deficiency and mitochondrial disorder due to a defect in mitochondrial protein synthesis. An important gene associated with Combined Oxidative Phosphorylation Deficiency 17 is ELAC2 (ElaC Ribonuclease Z 2). Affiliated tissues include skeletal muscle and heart, and related phenotypes are hypertrophic cardiomyopathy and decreased activity of mitochondrial complex i