Abstract
The initial detection of mitochondrial abnormalities in human muscle biopsies has always relied heavily on the use of cytochemical techniques. Early descriptions of mitochondrial myopathies were largely based on morphological data, with cytochemical methods being used primarily to detect characteristic abnormalities of mitochondrial distribution (Olson et al., 1972). It has since been demonstrated that many mitochondrial myopathies are due to specific defects within individual complexes of the respiratory chain; in some disorders single respiratory complexes are involved, whereas in others more than one complex is involved (for review see DiMauro et al., 1985). It has also been shown that while some mitochondrial defects appear to be expressed in skeletal muscle in a homogenous manner, with all muscle fibres similarly affected, other disorders are characterized by a mosaic distribution of the defect, with normal and abnormal fibres coexisting within the same muscle fibre population (Johnson et al., 1983).
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Johnson, M.A. (1991). Cytochemical and immunocytochemical investigation of respiratory complexes in individual fibres of human skeletal muscle. 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_4
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DOI: https://doi.org/10.1007/978-94-011-3114-8_4
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