GNE myopathy in a Chinese male with a novel homozygous mutation

J Clin Neurosci. 2017 May:39:68-72. doi: 10.1016/j.jocn.2016.12.041. Epub 2017 Mar 9.

Abstract

GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report a patient of novel homozygous GNE gene mutation from China.

Keywords: Chinese patient; GNE myopathy; Novel mutation.

Publication types

  • Case Reports

MeSH terms

  • Asian People / genetics*
  • China
  • Distal Myopathies / diagnosis*
  • Distal Myopathies / genetics*
  • Homozygote*
  • Humans
  • Male
  • Multienzyme Complexes / genetics*
  • Mutation / genetics*
  • Young Adult

Substances

  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

Supplementary concepts

  • Distal myopathy, Nonaka type