Abstract
Mitochondrial myopathies are clinical heterogeneous disorders associated with abnormal mitochondria and impaired oxidative metabolism in muscles. Cerebral and cardiac symptoms may also be present, implying a more generalized biochemical defect. Recently, the concept that at least some of the mitochondrial myopathies may be genetic diseases due to an alteration of the mitochondrial genome (mtDNA) has emerged. This hypothesis is based on the notion that mtDNA encodes essential subunits of respiratory enzymes. In support of this idea, reports of large mtDNA deletions in muscle of a number of patients affected by various myopathies have appeared in the literature during recent years.
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Further Reading
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© 1991 Springer Science+Business Media Dordrecht
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Bresolin, N. et al. (1991). Familiar cases of mitochondrial myopathies: Mitochondrial DNA deletions and genetic analysis. In: Gorrod, J.W., Albano, O., Ferrari, E., Papa, S. (eds) Molecular Basis of Neurological Disorders and Their Treatment. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-3114-8_22
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DOI: https://doi.org/10.1007/978-94-011-3114-8_22
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