Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

Q J Med. 1993 Jul;86(7):435-8.


A family with maternally inherited myopathy and cardiomyopathy is described. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 3260 in the leucine transfer RNA gene, previously reported in a large Italian family with a similar phenotype. This observation confirms pathogenicity of this mutation and suggests phenotypic specificity.

Publication types

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

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics*
  • Electrophoresis, Agar Gel
  • Female
  • Heart Failure / genetics*
  • Humans
  • Male
  • Muscular Diseases / genetics*
  • Mutation / genetics*
  • Pedigree
  • RNA, Transfer, Leu / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Leu