Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy

Acta Paediatr. 2007 Jan;96(1):130-2. doi: 10.1111/j.1651-2227.2007.00008.x.


Fatal infantile cardioencephalomyopathy (OMIM No. 604377) is a disorder of the mitochondrial respiratory chain and is characterised by neonatal progressive muscular hypotonia and cardiomyopathy because of severe Cytochrome c oxidase deficiency. Here we report a novel mutation in the Cytochrome c oxidase assembly gene SCO2 in an infant with fatal infantile cardioencephalomyopathy despite normal initial metabolic screening.

Conclusion: In newborns with unexplained muscular hypotonia and cardiomyopathy genetic testing of mitochondrial respiratory chain disorders might be helpful to establish a final diagnosis and guide treatment decisions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathies / genetics*
  • Carrier Proteins / genetics*
  • Cytochrome-c Oxidase Deficiency / complications
  • Cytochrome-c Oxidase Deficiency / genetics*
  • Fatal Outcome
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Proteins / genetics*
  • Molecular Chaperones
  • Mutation*


  • Carrier Proteins
  • Mitochondrial Proteins
  • Molecular Chaperones
  • SCO2 protein, human