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. 1973 Oct;36(5):806–812. doi: 10.1136/jnnp.36.5.806

Mitochondrial functions in five cases of human neuromuscular disorders

A Gimeno 1,2, J L Trueba 1,2, M Blanco 1,2, Mario Gosalvez 1,2
PMCID: PMC494460  PMID: 4753876

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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