Discordant manifestations in Italian brothers with GNE myopathy

J Neurol Sci. 2018 Mar 15:386:1-3. doi: 10.1016/j.jns.2018.01.002. Epub 2018 Jan 5.
No abstract available

Keywords: Clinical discordance; Exome sequencing; GNE myopathy; Italy; Rimmed vacuoles; UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase.

Publication types

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

MeSH terms

  • Adult
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Electron, Transmission
  • Multienzyme Complexes / genetics*
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / ultrastructure
  • Muscular Diseases / diagnostic imaging
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology*
  • Mutation, Missense
  • Siblings
  • Vacuoles / genetics
  • Vacuoles / pathology
  • Vacuoles / ultrastructure

Substances

  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase