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    Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

    Eric Shoubridge and colleagues report the identification of a mutation in the CCDC44 gene that is causal in a Leigh syndrome pedigree. The CCDC44 gene product, TACO1, is involved in mitochondrial translation and ...

    Woranontee Weraarpachai, Hana Antonicka, Florin Sasarman, Jürgen Seeger… in Nature Genetics (2009)