A case of GNE myopathy presenting a rapid deterioration during pregnancy

Jae Eun Sim, Ji Man Hong, Gyoung Im Suh, Hanna Cho, Kyung Seok Park, Eun Hee Sohn, Young Chul Choi

Research output: Contribution to journalArticle

4 Citations (Scopus)

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. Case Report 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.

Original languageEnglish
Pages (from-to)280-282
Number of pages3
JournalJournal of Clinical Neurology (Korea)
Volume9
Issue number4
DOIs
Publication statusPublished - 2013 Oct 10

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Muscular Diseases
N-Acetylneuraminic Acid
Pregnancy
Distal Myopathies
Mutation
Genes
Lower Extremity
Enzymes

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Sim, Jae Eun ; Hong, Ji Man ; Suh, Gyoung Im ; Cho, Hanna ; Park, Kyung Seok ; Sohn, Eun Hee ; Choi, Young Chul. / A case of GNE myopathy presenting a rapid deterioration during pregnancy. In: Journal of Clinical Neurology (Korea). 2013 ; Vol. 9, No. 4. pp. 280-282.
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A case of GNE myopathy presenting a rapid deterioration during pregnancy. / Sim, Jae Eun; Hong, Ji Man; Suh, Gyoung Im; Cho, Hanna; Park, Kyung Seok; Sohn, Eun Hee; Choi, Young Chul.

In: Journal of Clinical Neurology (Korea), Vol. 9, No. 4, 10.10.2013, p. 280-282.

Research output: Contribution to journalArticle

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AU - Hong, Ji Man

AU - Suh, Gyoung Im

AU - Cho, Hanna

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AU - Sohn, Eun Hee

AU - Choi, Young Chul

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AB - 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. Case Report 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.

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