A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy CLINICAL NEUROPATHOLOGY Mobley, B. C., Enns, G. M., Wong, L., Vogel, H. 2009; 28 (2): 143-149


Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date with SCO2 deficiency share a common p.E140K mutation in at least 1 allele. In order to further the understanding of the genotype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy, we describe a novel homozygous SCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry.

View details for Web of Science ID 000264437100011

View details for PubMedID 19353847