A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy

J Med Genet. 2003 Oct;40(10):752-7. doi: 10.1136/jmg.40.10.752.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Apoptosis
  • Cell Line
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Middle Aged
  • Mitochondria / ultrastructure
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Mutation*
  • Myoblasts, Skeletal / cytology
  • Myotonic Dystrophy / diagnosis
  • RNA, Transfer, Ala / genetics*

Substances

  • RNA, Transfer, Ala