A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy

Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochon- drial disease in infants. Mutations in the COX assembly geneSCO2 cause fatal infantile car- dioencephalomyopathy. All patients reported to date with SCO2 deficiency share a com- mon p.E140K mutation in at least 1 allele. In order to further the understanding of the ge- notype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy, we describe a novel homozygousSCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consan- guineous parents of Indian ancestry.