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Updated: Aug 22, 2026

Assessment of Open Probability of the Mitochondrial Permeability Transition Pore in the Setting of Coenzyme Q Excess
Published on: June 1, 2022
Progression despite replacement of a myopathic form of coenzyme Q10 defect
K Auré1, J F Benoist, H Ogier de Baulny
1INSERM U582, Institut de Myologie, Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
Abstract:
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ(10) supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may cause progressive neurologic disease despite supplementation.
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