X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts

J Inherit Metab Dis. 1996;19(2):157-60. doi: 10.1007/BF01799418.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / metabolism
  • Cardiomyopathy, Dilated / pathology
  • Cells, Cultured
  • DNA, Mitochondrial / metabolism
  • Electron Transport*
  • Genetic Linkage
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mitochondria / metabolism
  • Mitochondria / ultrastructure
  • Muscle, Skeletal
  • Muscular Diseases / genetics
  • Neutropenia / genetics*
  • Syndrome
  • X Chromosome*

Substances

  • DNA, Mitochondrial