Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism

J Med Genet. 2004 Dec;41(12):e124. doi: 10.1136/jmg.2004.022566.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosome Segregation
  • Codon
  • DNA Mutational Analysis
  • Female
  • Humans
  • Muscle, Skeletal / pathology
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • Point Mutation
  • Polymorphism, Genetic*
  • RNA / genetics*
  • RNA, Mitochondrial
  • RNA, Transfer, Leu / genetics*

Substances

  • Codon
  • RNA, Mitochondrial
  • RNA, Transfer, Leu
  • RNA