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September 1986

Mitochondrial Myopathy due to Complex III Deficiency With Normal Reducible Cytochrome b Concentration

Author Affiliations

From the Department of Neurology, University of Würzburg (Federal Republic of Germany) (Drs Reichmann, Rohkamm, and Ricker), and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York (Drs Zeviani, Servidei, and DiMauro).

Arch Neurol. 1986;43(9):957-961. doi:10.1001/archneur.1986.00520090081024

Defects of the respiratory chain of muscle mitochondria have been described in increasing number in recent years; such defects appear to comprise a large proportion of the biochemically defined "mitochondrial myopathies."1,2 Abnormalities of complexes 1, III, and IV have been identified by studies of oxidative phosphorylation, spectra of reduced-minus-oxidized cytochromes, and enzyme assays. The clinical picture may be confined to skeletal muscle or may involve other tissues, especially the central nervous system ("mitochondrial encephalomyopathy"). Of the eight described patients with complex III deficiency, five had only muscle symptoms1,3-5 and three suffered from encephalomyopathy.6,7 Biochemically, five patients showed a lack of reducible cytochrome b in the spectra,3,5-7 one had an incomplete defect of cytochrome b and lack of cytochrome c1,4 and two had normal cytochrome spectra1.

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