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Mitochondrial functions in five cases of human neuromuscular disorders
  1. A. Gimeno,
  2. J. L. Trueba,
  3. M. Blanco,
  4. Mario Gosalvez
  1. Department of Neurology, Clinica Puerta de Hierro, Facultad de Medicina, Universidad Autónoma, Madrid, Spain
  2. Department of Experimental Biochemistry, Clinica Puerta de Hierro, Facultad de Medicina, Universidad Autónoma, Madrid, Spain

    Abstract

    We determined the respiration, respiratory control, and Pi:O ratios with different substrates in mitochondria isolated from five cases of human neuromuscular disorders (two cases of central core disease, two cases of neuropathy of Dejerine-Sottas, and one case of Kugelberg-Welander's disease) and compared them with normal human muscle. In all the myopathies studied, a severe derangement of the respiratory control with variable derangement of oxidative phosphorylation was found. This supports the idea that a group of neuromyopathies shares the same biochemical lesion as the so-called mitochondrial myopathies, forming with them a group of myopathies which may be related through a similar biochemical lesion of varying degree. Alternatively, disturbance of mitochondrial functions in a number of myopathies could be considered as a non-specific finding.

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