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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis.

We report reduced respiratory chain enzyme activity in isolated muscle mitochondria and high levels of serum and CSF pyruvate and lactate in a case of cerebrotendinous xanthomatosis. These findings raise the question of the pathogenetic role of mitochondrial dysfunction in this syndrome.[1]


  1. Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis. Dotti, M.T., Manneschi, L., Federico, A. J. Neurol. Sci. (1995) [Pubmed]
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