An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

Neurology. 2002 Dec 10;59(11):1808-9. doi: 10.1212/01.wnl.0000031808.04545.e0.
No abstract available

Publication types

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

MeSH terms

  • Carbohydrate Epimerases / genetics*
  • Chromosomes, Human, Pair 9 / genetics
  • Escherichia coli Proteins*
  • Exons / genetics
  • Genes, Recessive
  • Humans
  • Italy
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Mutation / genetics*
  • Mutation / physiology
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / pathology
  • Pedigree
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Escherichia coli Proteins
  • Carbohydrate Epimerases
  • UDP acetylglucosamine-2-epimerase
  • wecB protein, E coli