CPOX, coproporphyrinogen oxidase, 1371

N. diseases: 246; N. variants: 19
Disease: MERRF Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.010 Biomarker disease BEFREE The patient presented with myoclonic epilepsy beginning at 10 years of age, a muscle biopsy with ragged red fibres and some COX negative fibres and progressive bilateral MRI hyperintensitivities in the basal ganglia constituting MERRF syndrome but lacked clinical characteristics of MELAS. 22270878 2012