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  1. No Access

    Article

    Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

    An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B12 presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal mu...

    V. Valayannopoulos, L. Hubert, J. F. Benoist… in Journal of Inherited Metabolic Disease (2009)

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    Article

    Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities

    Summary: Mitochondrial oxidative phosphorylation (OXPHOS) is fundamental in all aspects of cellular life in aerobic cells and organisms. It is therefore not surprising that a variety of diseases ...

    D. Chretien, P. Rustin in Journal of Inherited Metabolic Disease (2003)

  3. No Access

    Article

    Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

    Succinate dehydrogenase (SDH) deficiency represents a minor cause of Leigh syndrome (LS). Noticeably, the first mutation in a nuclear-encoded respiratory chain component, a mutation in the 5p15 copy of the fl...

    B. Parfait, D. Chretien, A. Rötig, C. Marsac, A. Munnich, P. Rustin in Human Genetics (2000)

  4. No Access

    Article

    Clinical presentation of mitochondrial disorders in childhood

    Respiratory-chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only i...

    A. Munnich, A. Rötig, D. Chretien, V. Cormier… in Journal of Inherited Metabolic Disease (1996)

  5. No Access

    Article

    Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?

    Recent studies have identified a group of patients with cytochrome oxidase (COX) deficiency presenting in infancy associated with a deficiency of mtDNA in muscle or other affected tissue (Moraes et al 1991). W...

    J. Poulton, C. Sewry, C. G. Potter, T. Bougeron… in Journal of Inherited Metabolic Disease (1995)

  6. No Access

    Article

    The investigation of respiratory chain disorders in heart using endomyocardial biopsies

    Hitherto, cardiomyopathy has never been reported as the presenting symptom of a mitochondrial disorder. Although it appears premature to conclude as to the prevalence of defects of oxidative phosphorylation in...

    P. Rustin, J. Lebidois, D. Chretien, T. Bourgeron… in Journal of Inherited Metabolic Disease (1993)

  7. No Access

    Article

    Clinical aspects of mitochondrial disorders

    Mitochondrial disorders have long been regarded as neuromuscular diseases only. In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expecte...

    A. Munnich, P. Rustin, A. Rötig, D. Chretien… in Journal of Inherited Metabolic Disease (1992)