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学科主题: 临床医学
题名:
Asian patients with limb girdle muscular dystrophy 21 (LGMD21)
作者: Hong, Daojun; Zhang, Wei; Wang, Wei; Wang, Zhaoxia; Yuan, Yun
关键词: alpha-Dystroglycan ; Fukutin-related protein ; Gene mutation ; Laminin-alpha 2 ; Limb girdle muscular dystrophy type 21 ; Rimmed vacuoles
刊名: JOURNAL OF CLINICAL NEUROSCIENCE
发表日期: 2011-04-01
DOI: 10.1016/j.jocn.2010.08.010
卷: 18, 期:4, 页:494-499
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: FUKUTIN-RELATED PROTEIN ; ALPHA-DYSTROGLYCAN ; GOLGI-APPARATUS ; GENE ; 2I ; MUTATIONS ; PHENOTYPE ; PREVALENCE ; SPECTRUM ; MDC1C
英文摘要:

Limb girdle muscular dystrophy type 2I (LGMD2I) is caused by defects in the fukutin-related protein (FKRP) gene. In most Caucasian patients with LGMD2I, the condition is associated with a missense mutation - c.826C>A (p.Leu27611e). We describe two Chinese brothers with progressive shoulder and pelvic muscle weakness. They had muscle stiffness and myalgia after exercise, but lacked obvious hypertrophy of the calves. Muscle biopsy showed dystrophic features with many rimmed vacuoles in the fibers. Immunohistochemistry and immunoblot analyses revealed reductions of alpha-(alpha)-dystroglycan (VIA4-1) and laminin-alpha 2 (80-kDa C-terminal and 300-kDa N-terminal). Two novel heterozygous mutations (c.208T>A and c.1030G>T) in the FKRP gene were identified in these patients. In addition, we summarise the clinical features of patients with LGMD2I in the Asian region. Our findings might indicate that the pathogenic FKRP mutations in Asian patients with LGMD2I are sporadic compound heterozygous mutations rather than the hot-spot c.826C>A mutation seen in Caucasian populations. (c) 2010 Elsevier Ltd. All rights reserved.

语种: 英语
所属项目编号: 30870864 ; 30971006
项目资助者: National Science Foundation of China
WOS记录号: WOS:000289325300010
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55843
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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作者单位: Peking Univ First Hosp, Dept Neurol, Beijing 100034, Peoples R China

Recommended Citation:
Hong, Daojun,Zhang, Wei,Wang, Wei,et al. Asian patients with limb girdle muscular dystrophy 21 (LGMD21)[J]. JOURNAL OF CLINICAL NEUROSCIENCE,2011,18(4):494-499.
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