A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency
E Boitier, F Degoul, I Desguerre, C Charpentier… - Journal of the …, 1998 - Elsevier
We report severe coenzyme Q10 deficiency of muscle in a 4-year-old boy presenting with
progressive muscle weakness, seizures, cerebellar syndrome, and a raised cerebro–spinal
fluid lactate concentration. State-3 respiratory rates of muscle mitochondria with glutamate,
pyruvate, palmitoylcarnitine, and succinate as respiratory substrates were markedly
reduced, whereas ascorbate/N, N, N′, N′-tetramethyl-p-phenylenediamine were oxidized
normally. The activities of complexes I, II, III and IV of the electron transport chain were …
progressive muscle weakness, seizures, cerebellar syndrome, and a raised cerebro–spinal
fluid lactate concentration. State-3 respiratory rates of muscle mitochondria with glutamate,
pyruvate, palmitoylcarnitine, and succinate as respiratory substrates were markedly
reduced, whereas ascorbate/N, N, N′, N′-tetramethyl-p-phenylenediamine were oxidized
normally. The activities of complexes I, II, III and IV of the electron transport chain were …