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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 |
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dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.contributor.author | 라윤경 | - |
dc.date.accessioned | 2020-12-01T18:06:09Z | - |
dc.date.available | 2020-12-01T18:06:09Z | - |
dc.date.issued | 2020-01 | - |
dc.identifier.issn | 2508-6960 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/180600 | - |
dc.description.abstract | Sarcoglycanopathies 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.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Korean Society of Clinical Neurophysiology | - |
dc.relation.isPartOf | Annals of Clinical Neurophysiology | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | LGMD2E with a novel nonsense variant in SGCB gene: a case of LGMD2E with a novel variant | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | Yun Kyung La | - |
dc.contributor.googleauthor | Eun Kyoung Oh | - |
dc.contributor.googleauthor | Hyun Ji Lyou | - |
dc.contributor.googleauthor | Ji Man Hong | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.relation.journalcode | J03908 | - |
dc.identifier.eissn | 2508-691X | - |
dc.subject.keyword | High-throughput nucleotide sequencing | - |
dc.subject.keyword | Sarcoglycanopathies | - |
dc.subject.keyword | SGCB | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | 최영철 | - |
dc.contributor.affiliatedAuthor | 홍지만 | - |
dc.citation.volume | 22 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 29 | - |
dc.citation.endPage | 32 | - |
dc.identifier.bibliographicCitation | Annals of Clinical Neurophysiology, Vol.22(1) : 29-32, 2020-01 | - |
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