GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM

Neurology. 2002 Dec 10;59(11):1776-9. doi: 10.1212/01.wnl.0000039780.13681.ad.

Abstract

Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). Two novel nonallosteric site missense mutations were found in the QS-IBM kinship. No mutations were identified in s-IBM patients. After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carbohydrate Epimerases / genetics*
  • Cloning, Molecular
  • Disease Progression
  • Escherichia coli Proteins*
  • Exons / genetics
  • Female
  • Follow-Up Studies
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Muscle, Skeletal / pathology*
  • Mutation / genetics*
  • Myositis, Inclusion Body / genetics*
  • Myositis, Inclusion Body / pathology*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • RNA / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

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