63 117

Cited 0 times in

선천성 혈소판감소증을 동반한 GNE 근육병증

DC FieldValueLanguage
dc.contributor.author김세훈-
dc.contributor.author신하영-
dc.contributor.author이정환-
dc.contributor.author최영철-
dc.contributor.author허준녕-
dc.date.accessioned2018-09-28T08:55:10Z-
dc.date.available2018-09-28T08:55:10Z-
dc.date.issued2018-
dc.identifier.issn2092-5077-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/163222-
dc.description.abstractGNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case of GNE myopathy with thrombocytopenia, having c.1664C>T (p.A555V) and c.1807G>C(p.V603L) mutations. These two are already well-known mutations, found commonly in multiple reports. We reviewed other cases of thrombocytopenia in GNE myopathy and concluded that thrombocytopenia may not be restricted to any specific mutation in the GNE gene or any one of two enzymes. Even so, a GNE gene defect can be the causative mutation for these cases of congenital thrombocytopenia, considering that hyposialylation of platelets may cause shortening of its lifespan, and the incidence of thrombocytopenia in GNE myopathy is much higher than in the normal population.-
dc.description.statementOfResponsibilityopen-
dc.languageKorean-
dc.publisher대한신경근육질환학회-
dc.relation.isPartOfKorean Journal of Neuromuscular Disorders (대한신경근육질환학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.title선천성 혈소판감소증을 동반한 GNE 근육병증-
dc.title.alternativeGNE Myopathy with Congenital Thrombocytopenia-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pathology-
dc.contributor.googleauthor허준녕-
dc.contributor.googleauthor김세훈-
dc.contributor.googleauthor신하영-
dc.contributor.googleauthor이정환-
dc.contributor.googleauthor최영철-
dc.contributor.localIdA00610-
dc.contributor.localIdA02170-
dc.contributor.localIdA03133-
dc.contributor.localIdA04116-
dc.contributor.localIdA05068-
dc.relation.journalcodeJ02068-
dc.subject.keywordDiatal myopathy-
dc.subject.keywordNonaka type-
dc.subject.keywordThrombocytopenia-
dc.contributor.alternativeNameKim, Se Hoon-
dc.contributor.alternativeNameShin, Ha Young-
dc.contributor.alternativeNameLee, Jung Hwan-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.alternativeNameHeo, Joon Nyung-
dc.contributor.affiliatedAuthorKim, Se Hoon-
dc.contributor.affiliatedAuthorShin, Ha Young-
dc.contributor.affiliatedAuthorLee, Jung Hwan-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.contributor.affiliatedAuthorHeo, Joon Nyung-
dc.citation.volume10-
dc.citation.number1-
dc.citation.startPage5-
dc.citation.endPage7-
dc.identifier.bibliographicCitationKorean Journal of Neuromuscular Disorders (대한신경근육질환학회지), Vol.10(1) : 5-7, 2018-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.