Combined Oxidative Phosphorylation Deficiency 16 (COXPD16)

Combined Oxidative Phosphorylation Deficiency 16, also known as infantile hypertrophic cardiomyopathy due to mrpl44 deficiency, is related to restrictive dermopathy. An important gene associated with Combined Oxidative Phosphorylation Deficiency 16 is MRPL44 (Mitochondrial Ribosomal Protein L44). Affiliated tissues include liver and skeletal muscle, and related phenotypes are hypertrophic cardiomyopathy and microvesicular hepatic steatosis