Coenzyme Q10 Deficiency, Primary, 1 (COQ10D1)

Coenzyme Q10 Deficiency, Primary, 1, also known as ubiquinone deficiency 1, is related to coenzyme q10 deficiency, primary, 4 and coenzyme q10 deficiency, primary, 6, and has symptoms including cerebellar ataxia, seizures and unspecified visual loss. An important gene associated with Coenzyme Q10 Deficiency, Primary, 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are 5q35 copy number variation and Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are tremor and dysphagia