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Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy

DC FieldValueLanguage
dc.contributor.author김승민-
dc.contributor.author김원주-
dc.contributor.author최영철-
dc.date.accessioned2014-12-18T08:58:16Z-
dc.date.available2014-12-18T08:58:16Z-
dc.date.issued2013-
dc.identifier.issn0967-5868-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/87292-
dc.description.abstractDystrophin-deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy, with variable clinical phenotypes ranging from the severe Duchenne (DMD) to the milder Becker (BMD) forms. In this study, we investigated the relationship between clinical characteristics, findings at immunohistochemistry (IHC) and Western blot, and the pattern of exon deletions in 24 male patients with dystrophinopathies. We retrospectively reviewed findings from clinical and laboratory examinations, IHC for dystrophin of muscle biopsy tissue, Western blot analysis, and multiplex polymerase chain reaction (PCR) examination of genomic DNA. All tests were performed in every patient. PCR examination revealed exon deletions in 13 patients (54.2%). At Western blot analysis, 15 patients (62.5%) were negative at all three dystrophin domains. Most of these patients had a clinical presentation consistent with the DMD phenotype. Nine (37.5%) others were weakly positive at one or more domains. Most of these patients presented clinically as BMD phenotype. One patient whose clinical presentation was consistent with BMD phenotype had normal findings at IHC and was weakly positive at all three domains on Western blot analysis; however, with the exception of this patient, the findings at IHC and Western blot were consistent for individual patients. Based on these findings, we conclude that Western blot analysis appears useful for confirmation of dystrophinopathy in BMD patients with normal staining on IHC. Exon deletion analysis by multiplex PCR using peripheral blood is also a simple and useful test for the diagnosis of dystrophinopathy, although it has limited sensitivity.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfJOURNAL OF CLINICAL NEUROSCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAge of Onset-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMuscular Dystrophy, Duchenne*/diagnosis-
dc.subject.MESHMuscular Dystrophy, Duchenne*/genetics-
dc.subject.MESHMuscular Dystrophy, Duchenne*/pathology-
dc.subject.MESHPhenotype-
dc.subject.MESHYoung Adult-
dc.titleClinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorSang-Jun Na-
dc.contributor.googleauthorWon-Joo Kim-
dc.contributor.googleauthorSeung Min Kim-
dc.contributor.googleauthorKee Ook Lee-
dc.contributor.googleauthorBora Yoon-
dc.contributor.googleauthorYoung-Chul Choi-
dc.identifier.doi10.1016/j.jocn.2012.09.021-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00653-
dc.contributor.localIdA00771-
dc.contributor.localIdA04116-
dc.relation.journalcodeJ01328-
dc.identifier.eissn1532-2653-
dc.identifier.pmid23790620-
dc.identifier.urlhttp://www.sciencedirect.com/science/article/pii/S0967586812006200-
dc.subject.keywordDystrophinopathy-
dc.subject.keywordImmunohistochemistry-
dc.subject.keywordMultiplex polymerase chain reaction-
dc.subject.keywordWestern blot-
dc.contributor.alternativeNameKim, Seung Min-
dc.contributor.alternativeNameKim, Won Joo-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.affiliatedAuthorKim, Seung Min-
dc.contributor.affiliatedAuthorKim, Won Joo-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.rights.accessRightsnot free-
dc.citation.volume20-
dc.citation.number8-
dc.citation.startPage1099-
dc.citation.endPage1105-
dc.identifier.bibliographicCitationJOURNAL OF CLINICAL NEUROSCIENCE, Vol.20(8) : 1099-1105, 2013-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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