Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.

@article{Park2012LimbgirdlePI,
  title={Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.},
  author={Y C Park and Hyang-suk Kim and Eun-Suk Choi and Jin-Hong Shin and Sun-Young Kim and Eun-Hui Son and Chang-Hoon Lee and Dae-Seong Kim},
  journal={Journal of the neurological sciences},
  year={2012},
  volume={321 1-2},
  pages={77-81}
}
The gene GNE encodes a bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Its mutations are found in distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM). Those disorders are characterized clinically by predominant anterior tibial muscle weakness and atrophy, and pathologically by rimmed vacuoles on muscle biopsy. We analyzed 11 Korean patients with GNE mutations. The mutations showed ethnic similarity to those of Japanese… CONTINUE READING

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