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LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant

DC Field Value Language
dc.contributor.author최영철-
dc.contributor.author홍지만-
dc.contributor.author라윤경-
dc.date.accessioned2020-12-01T18:06:09Z-
dc.date.available2020-12-01T18:06:09Z-
dc.date.issued2020-01-
dc.identifier.issn2508-6960-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/180600-
dc.description.abstractSarcoglycanopathies are a rare group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by genetic variants in α-, β-, γ-, or δ-sarcoglycan that maintain membrane integrity and contribute to molecular signal processing. High-throughput nucleotide sequencing was performed in patients with slowly progressive proximal muscle weakness from early childhood with respiratory involvement, which detected a novel homozygous nonsense variant (c.601C>T;p.Gln201Ter) in SGCB. This report informs about the clinical characteristics of LGMD2E (type-2E LGMD) in Korea and provides genetic confirmation of the disease.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherKorean Society of Clinical Neurophysiology-
dc.relation.isPartOfAnnals of Clinical Neurophysiology-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleLGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학교실)-
dc.contributor.googleauthorYun Kyung La-
dc.contributor.googleauthorEun Kyoung Oh-
dc.contributor.googleauthorHyun Ji Lyou-
dc.contributor.googleauthorJi Man Hong-
dc.contributor.googleauthorYoung-Chul Choi-
dc.contributor.localIdA04116-
dc.contributor.localIdA04439-
dc.relation.journalcodeJ03908-
dc.identifier.eissn2508-691X-
dc.subject.keywordHigh-throughput nucleotide sequencing-
dc.subject.keywordSarcoglycanopathies-
dc.subject.keywordSGCB-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.affiliatedAuthor최영철-
dc.contributor.affiliatedAuthor홍지만-
dc.citation.volume22-
dc.citation.number1-
dc.citation.startPage29-
dc.citation.endPage32-
dc.identifier.bibliographicCitationAnnals of Clinical Neurophysiology, Vol.22(1) : 29-32, 2020-01-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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