A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity.

@article{MorganHughes1979AMM,
  title={A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity.},
  author={John A. Morgan-Hughes and Paul Darveniza and D. Landon and John M. Land and John Bates Clark},
  journal={Journal of the neurological sciences},
  year={1979},
  volume={43 1},
  pages={27-46}
}
This paper presents data on two sisters with a mitochondrial myopathy characterised by weakness, marked exercise intolerance and a fluctuating lactic acidaemia. Both patients also experienced episodes of increased weakness which could be brought on by unaccustomed activity, going without food or by taking small quantities of alcohol. Metabolic studies during exercise showed a marked and sudden rise in blood lactate and pyruvate levels. Biochemical studies in one case showed that mitochondrial… CONTINUE READING