Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation

Neurology. 1998 Nov;51(5):1447-50. doi: 10.1212/wnl.51.5.1447.


The A-to-G mutation at position 8344 in the transfer RNAlysine mitochondrial DNA gene is associated mostly with the myoclonic epilepsy and ragged red fibers syndrome. We describe a five-generation family with this mutation and 19 affected members with a variant neurologic syndrome of ataxia, myopathy, hearing loss, and neuropathy. Along with axial lipomas and diabetes mellitus, hypertension is a frequent somatic feature, suggesting that mitochondrial mutations may contribute to hypertension in these patients.

Publication types

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

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus / genetics
  • Female
  • Humans
  • Hypertension / genetics
  • Lipoma / genetics
  • Lipoma / pathology
  • MERRF Syndrome / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Point Mutation*
  • RNA, Transfer, Lys / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Lys