Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy

Biochem Biophys Res Commun. 1994 Aug 15;202(3):1606-11. doi: 10.1006/bbrc.1994.2116.


The mitochondrial DNA of a 41 year old patient with ocular myopathy was explored. We found a deletion of 3540 base pair in about 50% of the mitochondrial genomes associated with a homoplasmic point mutation. The mutation at nucleotide pair 7444 converts stop codon AGA into lysine codon AAA (human mitochondrial genetic code). The synergistic effect between two point mutations has already been described in mitochondrial pathology but this is the first time that an association between a deletion and a point mutation is shown.

MeSH terms

  • Adult
  • Base Sequence
  • DNA Primers
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Molecular Sequence Data
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Point Mutation*
  • Sequence Deletion*


  • DNA Primers
  • DNA, Mitochondrial