Muscle pathology in cytochrome c oxidase deficiency

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ID: 115962
1970
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Abstract
Muscle biopsies from 16 patients with cytochromec oxidase (CCO) deficiency were examined morphologically. Two siblings had the fatal infantile form. The muscle of the older sister at the age of 5 months had numerous ragged-red fibers (RRF) and increased numbers of lipid droplets; at 28 days the brother had no RRF suggesting that the RRF formed later than 28 days. The muscle pathology in two patients with the benign infantile form improved as they grew older; numbers of RRF, lipid droplets and glycogen particles decreased and CCO activity increased in the second biopsy. In the encephalomyopathic form, RRF were seen in 5 of 12 muscles mostly in patients more than 6 years of age. Muscle spindles and blood vessel walls in the biopsies from three patients with rapid clinical aggravation had no CCO activity, suggesting that enzyme activity differed from tissue to tissue (tissue specificity).
Reference Key
nonaka1970actamuscle Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors I. Nonaka;Y. Koga;K. Shikura;M. Kobayashi;N. Sugiyama;E. Okino;K. Nihei;M. Tojo;M. Segawa;I. Nonaka;Y. Koga;K. Shikura;M. Kobayashi;N. Sugiyama;E. Okino;K. Nihei;M. Tojo;M. Segawa;
Journal acta neuropathologica
Year 1970
DOI
doi:10.1007/BF00687425
URL
https://link.springer.com/article/10.1007/BF00687425
Keywords
pathology neurosciences

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