Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy

Eur J Neurol. 2007 Sep;14(9):e14-5. doi: 10.1111/j.1468-1331.2007.01905.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Creatine Kinase
  • Genetic Predisposition to Disease
  • Histidine / genetics
  • Humans
  • Leg / physiopathology*
  • Male
  • Multienzyme Complexes / genetics*
  • Mutation
  • Myelitis, Transverse / complications
  • Myelitis, Transverse / genetics*
  • Myositis, Inclusion Body / enzymology*
  • Myositis, Inclusion Body / genetics*
  • Proline / genetics

Substances

  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
  • Histidine
  • Proline
  • Creatine Kinase