Combined Oxidative Phosphorylation Deficiency 13 (COXPD13)

Combined Oxidative Phosphorylation Deficiency 13, also known as coxpd13, is related to combined oxidative phosphorylation deficiency and cardiomyopathy, familial hypertrophic, 1. An important gene associated with Combined Oxidative Phosphorylation Deficiency 13 is PNPT1 (Polyribonucleotide Nucleotidyltransferase 1). Affiliated tissues include eye and brain, and related phenotypes are increased serum lactate and mitochondrial respiratory chain defects