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Journal Article

Defective assembly of the respiratory chain


Larsson,  N.G.
Department Larsson - Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Max Planck Society;

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Esteitie, N., & Larsson, N. (2004). Defective assembly of the respiratory chain. Acta Paediatr, 93(10), 1268-70.

Cite as: https://hdl.handle.net/21.11116/0000-000B-7474-0
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 be paid to mutations in COX assembly genes.