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A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant Emery-Dreifuss muscular dystrophy
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Kim, Hyun Y. | - |
| dc.contributor.author | Ki, Chang-Seok | - |
| dc.contributor.author | Kang, Seok-Jae | - |
| dc.contributor.author | Khang, Shin K. | - |
| dc.contributor.author | Koh, Seong-Ho | - |
| dc.contributor.author | Kim, Dong-Won | - |
| dc.contributor.author | Kim, Seung H. | - |
| dc.contributor.author | Sung, Il-Hoon | - |
| dc.date.accessioned | 2022-12-21T00:58:42Z | - |
| dc.date.available | 2022-12-21T00:58:42Z | - |
| dc.date.issued | 2008-10 | - |
| dc.identifier.issn | 0148-639X | - |
| dc.identifier.issn | 1097-4598 | - |
| dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/177821 | - |
| dc.description.abstract | We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene. Within this single family, the age of onset and disease severity varied among the family members. In addition, focal defects of nuclear membranes with chromatin blebs in endothelial cells was shown via electron microscopy. | - |
| dc.format.extent | 4 | - |
| dc.language | 영어 | - |
| dc.language.iso | ENG | - |
| dc.publisher | John Wiley & Sons Inc. | - |
| dc.title | A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant Emery-Dreifuss muscular dystrophy | - |
| dc.type | Article | - |
| dc.publisher.location | 미국 | - |
| dc.identifier.doi | 10.1002/mus.21066 | - |
| dc.identifier.scopusid | 2-s2.0-53549086418 | - |
| dc.identifier.wosid | 000259843700016 | - |
| dc.identifier.bibliographicCitation | Muscle and Nerve, v.38, no.4, pp 1336 - 1339 | - |
| dc.citation.title | Muscle and Nerve | - |
| dc.citation.volume | 38 | - |
| dc.citation.number | 4 | - |
| dc.citation.startPage | 1336 | - |
| dc.citation.endPage | 1339 | - |
| dc.type.docType | Article | - |
| dc.description.isOpenAccess | N | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
| dc.relation.journalResearchArea | Neurosciences & Neurology | - |
| dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
| dc.relation.journalWebOfScienceCategory | Neurosciences | - |
| dc.subject.keywordPlus | LAMIN A/C GENE | - |
| dc.subject.keywordPlus | EXTREME VARIABILITY | - |
| dc.subject.keywordPlus | PROTEINS | - |
| dc.subject.keywordPlus | DEFECTS | - |
| dc.subject.keywordPlus | DISEASE | - |
| dc.subject.keywordAuthor | autosomal dominant | - |
| dc.subject.keywordAuthor | Emery-Dreifuss muscular dystrophy | - |
| dc.subject.keywordAuthor | Leu162Pro | - |
| dc.subject.keywordAuthor | LMNA gene | - |
| dc.subject.keywordAuthor | mutation | - |
| dc.identifier.url | https://onlinelibrary.wiley.com/doi/10.1002/mus.21066 | - |
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Related Researcher
- Koh, Seong-Ho
- 서울 의과대학 (DEPARTMENT OF NEUROLOGY)