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A mitochondrial myopathy characterised by a deficiency in reducible cytochrome b. By JA Morgan-Hughes, P Darveniza, SN Kahn, DN Langdon, RM Sherratt, JM Land and JB Clark (From the Institute of Neurology, Queen Square, London WC1 and the Biochemistry Department, St Bartholomew's Hospital Medical College, London EC1) Brain 1977; 100: 617–640.
Cambridge
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Hitherto, morphological changes seen in mitochondria obtained from samples of skeletal muscle in a variety of neuromuscular disorders have not been correlated with functional abnormalities and so have not been considered significant for the pathogenesis of these conditions. But more recently, investigators from Cornell University have linked these same ultrastructural features to a primary biochemical abnormality of mitochondrial function. The evidence hints at a disturbance of cellular respiration in the presence of various substrates. In Luft's disease, hyper-metabolism (not of thyroid origin) is observed but, for the rest, insights into the disease mechanisms are lacking. Now that situation changes. ‘The present paper reports the findings in a man whose weakness and striking muscular fatigability appeared to be due to a primary disturbance of mitochondrial function. Biochemical studies of isolated mitochondrial fractions have shown a specific deficiency of reducible cytochrome b’.
N.T., now aged 38 years, has had weakness and muscle