Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers.
Histochemical investigations were carried out on skeletal muscle biopsies from ten patients with chronic progressive external ophthalmoplegia with ragged-red fibers (RRF). In addition to the RRF, mild myopathic change consisting of variation in size of both type 1 and 2 fibers was seen in all patients, as well as neuropathic change in eight. Scattered fibers with absent cytochrome c oxidase (CCO) activity (focal deficiency) were seen in all patients. In serial sections, CCO deficiency did not always occupy the entire length of a fiber but was localized segmentally to regions measuring several hundred micrometers in length, suggesting the heterogeneity of CCO activity even in the same fiber.
Yamamoto
M
M
Division of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan.
Nonaka
I
I
D000328:Adult; D000368:Aged; D001706:Biopsy; D002908:Chronic Disease; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000201:enzymology / Q000473:pathology*; D009886:Ophthalmoplegia / Q000150:complications / Q000201:enzymology / Q000473:pathology*