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  • Title: Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis.
    Author: Dotti MT, Manneschi L, Federico A.
    Journal: J Neurol Sci; 1995 Apr; 129(2):106-8. PubMed ID: 7608723.
    Abstract:
    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.
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