COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Disease: Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.010 Biomarker disease BEFREE In contrast to previously reported patients with CoQ2 the proband presented with early myoclonic epilepsy, hypertrophic cardiomyopathy and only in a later stage developed a nephrotic syndrome. 23816342 2013