Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

J Inherit Metab Dis. 1992;15(3):323-6. doi: 10.1007/BF02435967.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cytochrome-c Oxidase Deficiency*
  • DNA, Mitochondrial / metabolism*
  • Female
  • Fibroblasts / metabolism*
  • Histocytochemistry
  • Humans
  • Infant
  • Mitochondria / metabolism
  • Mitochondria / ultrastructure
  • Muscles / metabolism*
  • Muscles / ultrastructure
  • Muscular Diseases / etiology*
  • Staining and Labeling

Substances

  • DNA, Mitochondrial