Cited 4 times in
Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
DC Field | Value | Language |
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dc.contributor.author | 이정환 | - |
dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2018-07-20T08:22:18Z | - |
dc.date.available | 2018-07-20T08:22:18Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1738-6586 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/161129 | - |
dc.description.abstract | BACKGROUND AND PURPOSE: The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. However, diagnosing early-onset Emery-Dreifuss muscular dystrophy (EDMD) with later involvement of contracture and limb-girdle muscular dystrophy type 1B is often delayed due to heterogeneous clinical presentations. We aimed to determine the clinical features that contribute to a delayed diagnosis. METHODS: We reviewed four patients who were recently diagnosed with LMNA-associated muscular dystrophy by targeted exome sequencing and who were initially diagnosed with nonspecific or other types of muscular dystrophy. RESULTS: Certain clinical features such as delayed contracture involvement and calf hypertrophy were found to contribute to a delayed diagnosis. Muscle biopsies were not informative for the diagnosis in these patients. CONCLUSIONS: Genetic testing of single or multiple genes is useful for confirming a diagnosis of LMNA-associated muscular dystrophy. Even EDMD patients could experience the later involvement of contracture, so clinicians should consider early genetic testing for patients with undiagnosed muscular dystrophy or laminopathy. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Korean Neurological Association | - |
dc.relation.isPartOf | JOURNAL OF CLINICAL NEUROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Neurology | - |
dc.contributor.googleauthor | Younggun Lee | - |
dc.contributor.googleauthor | Jung Hwan Lee | - |
dc.contributor.googleauthor | Hyung Jun Park | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.identifier.doi | 10.3988/jcn.2017.13.4.405 | - |
dc.contributor.localId | A03133 | - |
dc.contributor.localId | A04116 | - |
dc.relation.journalcode | J01327 | - |
dc.identifier.eissn | 2005-5013 | - |
dc.identifier.pmid | 29057633 | - |
dc.subject.keyword | emery-dreifuss muscular dystrophy | - |
dc.subject.keyword | lamin A/C | - |
dc.subject.keyword | limb-girdle muscular dystrophy type 1B | - |
dc.contributor.alternativeName | Lee, Jung Hwan | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Lee, Jung Hwan | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.citation.volume | 13 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 405 | - |
dc.citation.endPage | 410 | - |
dc.identifier.bibliographicCitation | JOURNAL OF CLINICAL NEUROLOGY, Vol.13(4) : 405-410, 2017 | - |
dc.identifier.rimsid | 61018 | - |
dc.type.rims | ART | - |
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