The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype

Marina Grandis, Rossella Gulli, Denise Cassandrini, Elisabetta Gazzerro, Luana Benedetti, Eleonora Narciso, Lucilla Nobbio, Claudio Bruno, Carlo Minetti, Emilia Bellone, Lizia Reni, Giovanni Luigi Mancardi, Paola Mandich, Angelo Schenone

Research output: Contribution to journalArticlepeer-review


Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the "common" Middle Eastern mutation (M712T), rarely described in non-Jewish patients; and an Italian patient carrying a novel GNE mutation (L179F) in the epimerase domain. Our patients share common clinical and histopathological features, with some interesting aspects. The first patient presented a clinical deterioration during her first pregnancy confirming that an increased requirement of sialic acid during pregnancy may trigger a clinical worsening. The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression.

Original languageEnglish
Pages (from-to)377-380
Number of pages4
JournalNeurological Sciences
Issue number3
Publication statusPublished - Jun 2010


  • Distal myopathy with rimmed vacuoles (DMRV)
  • Hereditary inclusion body myopathy (IBM2)
  • Middle Eastern Jewish founder mutation
  • Nonaka myopathy
  • Rimmed vacuoles
  • UDP-N-Acetylglucosamine 2-epimerase/N- acetylmannosamine kinase (GNE)

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology
  • Medicine(all)


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