Mitochondrial disorders

Jpn J Hum Genet. 1997 Dec;42(4):473-87. doi: 10.1007/BF02767024.


In this minireview, we attempt to survey the three main group of mitochondrial disorders, defects of nuclear DNA, defects of mitochondrial DNA, and defects of intergenomic signaling, with emphasis on recent contributions and pathogenetic mechanisms. In so doing, we have tried to point out some of the numerous unsolved problems in genotype/phenotype correlation and to indicate future directions of research.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Central Nervous System Diseases / genetics
  • DNA, Mitochondrial / genetics*
  • Gene Deletion
  • Genotype
  • Humans
  • Mitochondrial Encephalomyopathies / genetics*
  • Mutation
  • Phenotype


  • DNA, Mitochondrial