title: A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.
abstract: BACKGROUND
  GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway.
  
  
  METHODS
  A 27-year-old Korean woman presented a rapid deterioration in strength of the distal lower limbs during her first pregnancy. She was diagnosed with GNE myopathy and carrying the compound heterozygous mutations of the GNE gene (D208N/M29T).
  
  
  CONCLUSIONS
  This is a representative case implying that an increased requirement of sialic acid during pregnancy might trigger a clinical worsening of GNE myopathy.
authors.affiliation: Department of Neurology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Jae Eun
authors.initials: JE
authors.lastname: Sim
authors.forename: Ji-Man
authors.initials: JM
authors.lastname: Hong
authors.forename: Gyoung Im
authors.initials: GI
authors.lastname: Suh
authors.forename: Hanna
authors.initials: H
authors.lastname: Cho
authors.forename: Kyung Seok
authors.initials: KS
authors.lastname: Park
authors.forename: Eun-Hee
authors.initials: EH
authors.lastname: Sohn
authors.forename: Young-Chul
authors.initials: YC
authors.lastname: Choi
keywords: GNE gene; GNE myopathy; hyposialylation; pregnancy; sialic acid