Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

J Neurol. 2007 Sep;254(9):1283-5. doi: 10.1007/s00415-006-0490-7. Epub 2007 Apr 6.
No abstract available

Publication types

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

MeSH terms

  • Blepharoptosis / genetics
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Exercise Tolerance / genetics*
  • Humans
  • Intermittent Claudication / genetics
  • Male
  • Middle Aged
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation*
  • RNA, Transfer, Lys / genetics*

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Lys