Combined Oxidative Phosphorylation Deficiency 7 (COXPD7)

Combined Oxidative Phosphorylation Deficiency 7, also known as coxpd7, is related to combined oxidative phosphorylation deficiency, and has symptoms including ataxia, ophthalmoplegia and muscle weakness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 7 is MTRFR (Mitochondrial Translation Release Factor In Rescue). Affiliated tissues include eye and skeletal muscle, and related phenotypes are visual impairment and optic atrophy