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Cell Press, American Journal of Human Genetics, 6(82), p. 1281-1289, 2008

DOI: 10.1016/j.ajhg.2008.05.002

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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Journal article published in 2008 by Valeria Massa, Erika Fernandez-Vizarra ORCID, Saad Alshahwan, Eman Bakhsh, Paola Goffrini, Ileana Ferrero, Paolo Mereghetti, Pio D'Adamo ORCID, Paolo Gasparini, Massimo Zeviani
This paper is available in a repository.
This paper is available in a repository.

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Abstract

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.