Combined Oxidative Phosphorylation Deficiency 6 (COXPD6)

Combined Oxidative Phosphorylation Deficiency 6, also known as severe x-linked mitochondrial encephalomyopathy, is related to mitochondrial encephalomyopathy and charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia, and has symptoms including muscular fasciculation, seizures and muscle weakness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 6 is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are delayed speech and language development and skeletal muscle atrophy