Which muscular findings are characteristic of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Answer

Atrophy and pyknotic nuclei have been reported. Mitochondrial dysfunction has also been noted, as revealed by decreased respiratory chain activity and increased levels of pyruvate and lactate in the serum and cerebrospinal fluid. [37]


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