Coenzyme Q10 Deficiency, Primary, 5 (COQ10D5)

Coenzyme Q10 Deficiency, Primary, 5, also known as encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, is related to motor neuritis and ataxia with vitamin e deficiency. An important gene associated with Coenzyme Q10 Deficiency, Primary, 5 is COQ9 (Coenzyme Q9), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are seizure and hypothermia