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A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain


, : A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain. Brain 107: 1165-1177

A 20-year-old Chilean girl presented with lifelong ptosis and fatiguable weakness which was initially thought to be due to a congenital myasthenic syndrome. Studies of an intercostal muscle biopsy showed normal endplate morphology, abundant acetylcholinesterase activity and a normal number of junctional acetylcholine receptors as determined by radiochemical assay, but a high proportion of the muscle fibres contained large peripheral aggregations of abnormal mitochondria. Biochemical investigation of mitochondria isolated from the vastus lateralis muscle demonstrated a hitherto unreported respiratory chain deficiency localized to complex III.

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PMID: 6095966


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