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A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy

DC FieldValueLanguage
dc.contributor.author서경임-
dc.contributor.author최영철-
dc.contributor.author홍지만-
dc.date.accessioned2014-12-18T09:45:26Z-
dc.date.available2014-12-18T09:45:26Z-
dc.date.issued2013-
dc.identifier.issn1738-6586-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/88770-
dc.description.abstractBACKGROUND: 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.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfJOURNAL OF CLINICAL NEUROLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleA Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorJae Eun Sim-
dc.contributor.googleauthorJi-Man Hong-
dc.contributor.googleauthorGyoung Im Suh-
dc.contributor.googleauthorHanna Cho-
dc.contributor.googleauthorKyung Seok Park-
dc.contributor.googleauthorEun-Hee Sohn-
dc.contributor.googleauthorYoung-Chul Choi-
dc.identifier.doi10.3988/jcn.2013.9.4.280-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01871-
dc.contributor.localIdA04116-
dc.contributor.localIdA04439-
dc.relation.journalcodeJ01327-
dc.identifier.eissn2005-5013-
dc.identifier.pmid24285971-
dc.subject.keywordGNE myopathy-
dc.subject.keywordGNE gene-
dc.subject.keywordsialic acid-
dc.subject.keywordpregnancy-
dc.subject.keywordhyposialylation-
dc.contributor.alternativeNameSuh, Gyoung Im-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.alternativeNameHong, Ji Man-
dc.contributor.affiliatedAuthorSuh, Gyoung Im-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.contributor.affiliatedAuthorHong, Ji Man-
dc.rights.accessRightsfree-
dc.citation.volume9-
dc.citation.number4-
dc.citation.startPage280-
dc.citation.endPage282-
dc.identifier.bibliographicCitationJOURNAL OF CLINICAL NEUROLOGY, Vol.9(4) : 280-282, 2013-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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