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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture

Authors
 Younggun Lee  ;  Jung Hwan Lee  ;  Hyung Jun Park  ;  Young-Chul Choi 
Citation
 Journal of Clinical Neurology, Vol.13(4) : 405-410, 2017 
Journal Title
 Journal of Clinical Neurology 
ISSN
 1738-6586 
Issue Date
2017
Keywords
emery-dreifuss muscular dystrophy ; lamin A/C ; limb-girdle muscular dystrophy type 1B
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/161129
DOI
10.3988/jcn.2017.13.4.405
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)
Yonsei Authors
이정환(Lee, Jung Hwan) ; 최영철(Choi, Young Chul)
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