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    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)