Cited 11 times in
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 서경임 | - |
dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.date.accessioned | 2014-12-18T09:45:26Z | - |
dc.date.available | 2014-12-18T09:45:26Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 1738-6586 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/88770 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.relation.isPartOf | JOURNAL OF CLINICAL NEUROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | Jae Eun Sim | - |
dc.contributor.googleauthor | Ji-Man Hong | - |
dc.contributor.googleauthor | Gyoung Im Suh | - |
dc.contributor.googleauthor | Hanna Cho | - |
dc.contributor.googleauthor | Kyung Seok Park | - |
dc.contributor.googleauthor | Eun-Hee Sohn | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.identifier.doi | 10.3988/jcn.2013.9.4.280 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01871 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.relation.journalcode | J01327 | - |
dc.identifier.eissn | 2005-5013 | - |
dc.identifier.pmid | 24285971 | - |
dc.subject.keyword | GNE myopathy | - |
dc.subject.keyword | GNE gene | - |
dc.subject.keyword | sialic acid | - |
dc.subject.keyword | pregnancy | - |
dc.subject.keyword | hyposialylation | - |
dc.contributor.alternativeName | Suh, Gyoung Im | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.alternativeName | Hong, Ji Man | - |
dc.contributor.affiliatedAuthor | Suh, Gyoung Im | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Hong, Ji Man | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 9 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 280 | - |
dc.citation.endPage | 282 | - |
dc.identifier.bibliographicCitation | JOURNAL OF CLINICAL NEUROLOGY, Vol.9(4) : 280-282, 2013 | - |
dc.identifier.rimsid | 33607 | - |
dc.type.rims | ART | - |
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