Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome

Chin Med J (Engl). 2019 Apr 5;132(7):865-867. doi: 10.1097/CM9.0000000000000151.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics*
  • Electroencephalography
  • Humans
  • MERRF Syndrome / genetics*
  • Male
  • Mitochondrial Myopathies / genetics*
  • Mutation
  • RNA, Transfer, Asn / genetics*

Substances

  • DNA, Mitochondrial
  • RNA, Transfer, Asn