Condition: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2


rs28939711 in CUTC;COX15 gene and CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 PMID 12474143 2003 Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

PMID 21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.