Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA

J Inherit Metab Dis. 2003;26(5):507-8. doi: 10.1023/a:1025133629685.


The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We report a second patient with the same mutation and phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • DNA, Mitochondrial / genetics*
  • Female
  • Genotype
  • Humans
  • Phenotype
  • Point Mutation*
  • RNA, Transfer, Asn / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Asn