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A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

Authors
 Jae Eun Sim  ;  Ji-Man Hong  ;  Gyoung Im Suh  ;  Hanna Cho  ;  Kyung Seok Park  ;  Eun-Hee Sohn  ;  Young-Chul Choi 
Citation
 JOURNAL OF CLINICAL NEUROLOGY, Vol.9(4) : 280-282, 2013 
Journal Title
 JOURNAL OF CLINICAL NEUROLOGY 
ISSN
 1738-6586 
Issue Date
2013
Keywords
GNE myopathy ; GNE gene ; sialic acid ; pregnancy ; hyposialylation
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.
Files in This Item:
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DOI
10.3988/jcn.2013.9.4.280
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Suh, Gyoung Im(서경임)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88770
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