Back to Search
Start Over
Defective assembly of the respiratory chain.
- Source :
-
Acta Paediatrica . Oct2004, Vol. 93 Issue 10, p1268-1270. 3p. - Publication Year :
- 2004
-
Abstract
- A functional respiratory chain is dependent on protein components encoded by both mtDNA and nuclear DNA. Isolated cytochrome c oxidase (COX) deficiency is often caused by mutations in nuclear genes regulating the assembly of the 13 protein subunits of this complex. The accompanying paper by Zeman and co-workers reports that mutations in SCO2 are common in infantile COX deficiency and are associated with a very poor prognosis. Conclusion: Molecular diagnosis is often feasible in patients with COX deficiency and particular attention should he paid to mutations in COX assembly genes. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08035253
- Volume :
- 93
- Issue :
- 10
- Database :
- Academic Search Index
- Journal :
- Acta Paediatrica
- Publication Type :
- Academic Journal
- Accession number :
- 14831468
- Full Text :
- https://doi.org/10.1111/j.1651-2227.2004.tb02920.x