Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

Biochim Biophys Acta. 1999 Feb 9;1410(2):125-45. doi: 10.1016/s0005-2728(98)00162-5.


Over the past decade a large body of evidence has accumulated implicating defects of human mitochondrial DNA in the pathogenesis of a group of disorders known collectively as the mitochondrial encephalomyopathies. Although impaired oxidative phosphorylation is likely to represent the final common pathway leading to cellular dysfunction in these diseases, fundamental issues still remain elusive. Perhaps the most challenging of these is to understand the mechanisms which underlie the complex relationship between genotype and phenotype. Here we examine this relationship and discuss some of the factors which are likely to be involved.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain Diseases / etiology*
  • DNA, Mitochondrial / genetics*
  • Gene Rearrangement
  • Genotype
  • Humans
  • Mitochondria / pathology
  • Mutation
  • Phenotype
  • Protein Biosynthesis
  • Proteins / genetics
  • RNA, Transfer / genetics


  • DNA, Mitochondrial
  • Proteins
  • RNA, Transfer