GNE mutations causing distal myopathy with rimmed vacuoles with inflammation

Neurology. 2003 Aug 12;61(3):384-6. doi: 10.1212/01.wnl.0000061520.63546.8f.

Abstract

The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Carbohydrate Epimerases / genetics*
  • Connective Tissue / pathology
  • DNA Mutational Analysis
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Japan
  • Male
  • Multienzyme Complexes / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation, Missense
  • Myositis / pathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*
  • Vacuoles / pathology

Substances

  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
  • Phosphotransferases (Alcohol Group Acceptor)
  • N-acylmannosamine kinase
  • Carbohydrate Epimerases
  • UDP acetylglucosamine-2-epimerase

Associated data

  • OMIM/600737
  • OMIM/605820