Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 82, Issue 6, Pages 1281-1289Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2008.05.002
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Funding
- Telethon [GGP07019] Funding Source: Medline
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Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
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