Human CoQ10 deficiencies.

  title={Human CoQ10 deficiencies.},
  author={Catarina M Quinzii and Luis A. Lopez and Ali Safavi Naini and Salvatore Dimauro and M Hirano},
  volume={32 1-4},
Coenzyme Q10 (CoQ10 or ubiquinone) is a lipid-soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ10 is to transport electrons from complexes I and II to complex III in the respiratory chain which resides in the mitochondrial inner membrane. Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged… CONTINUE READING