Nuclear gene defects in respiratory chain disorders.

Abstract excerpt

Deficiencies in the activity of the components of the mitochondrial respiratory chain can result from mutations in genes encoded in the mitochondrial (mtDNA) or nuclear genomes. Mutations in mtDNA have been identified over the past decade in a wide spectrum of clinical disorders, and attention has now turned to identifying nuclear gene defects. Positional cloning, candidate gene analysis, and functional...

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