Cox Deficiency, Benign Infantile Mitochondrial Myopathy

Cox Deficiency, Benign Infantile Mitochondrial Myopathy, also known as isolated cytochrome c oxidase deficiency, is related to cardiomyopathy, infantile hypertrophic and mitochondrial disease. An important gene associated with Cox Deficiency, Benign Infantile Mitochondrial Myopathy is COA3 (Cytochrome C Oxidase Assembly Factor 3), and among its related pathways/superpathways are Gene expression (Transcription) and Metabolism. Affiliated tissues include skeletal muscle and liver, and related phenotype is Decreased shRNA abundance.