Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 박형준 | - |
dc.date.accessioned | 2017-12-27T16:30:52Z | - |
dc.date.available | 2017-12-27T16:30:52Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1738-6586 | - |
dc.identifier.other | OAK-21505 | - |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/239382 | - |
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 non-specific 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 undiag-nosed muscular dystrophy or laminopathy. © 2017 Korean Neurological Association. | - |
dc.language | English | - |
dc.publisher | Korean Neurological Association | - |
dc.subject | Emery-dreifuss muscular dystrophy | - |
dc.subject | Lamin A/C | - |
dc.subject | Limb-girdle muscular dystrophy type 1B | - |
dc.title | Early-onset LMNA-associated muscular dystrophy with later involvement of contracture | - |
dc.type | Article | - |
dc.relation.issue | 4 | - |
dc.relation.volume | 13 | - |
dc.relation.index | SCIE | - |
dc.relation.index | SCOPUS | - |
dc.relation.index | KCI | - |
dc.relation.startpage | 405 | - |
dc.relation.lastpage | 410 | - |
dc.relation.journaltitle | Journal of Clinical Neurology (Korea) | - |
dc.identifier.doi | 10.3988/jcn.2017.13.4.405 | - |
dc.identifier.wosid | WOS:000413062000012 | - |
dc.identifier.scopusid | 2-s2.0-85032335135 | - |
dc.author.google | Lee Y. | - |
dc.author.google | Lee J.H. | - |
dc.author.google | Park H.J. | - |
dc.author.google | Choi Y.-C. | - |
dc.contributor.scopusid | 박형준(55989522800) | - |
dc.date.modifydate | 20180306081004 | - |