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Asian patients with limb girdle muscular dystrophy 21 (LGMD21)
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
2011-04-01
DOI10.1016/j.jocn.2010.08.010
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
WOS记录号WOS:000289325300010
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被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55843
专题北京大学第一临床医学院_神经内科
作者单位Peking Univ First Hosp, Dept Neurol, Beijing 100034, Peoples R China
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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.
APA Hong, Daojun,Zhang, Wei,Wang, Wei,Wang, Zhaoxia,&Yuan, Yun.(2011).Asian patients with limb girdle muscular dystrophy 21 (LGMD21).JOURNAL OF CLINICAL NEUROSCIENCE,18(4),494-499.
MLA Hong, Daojun,et al."Asian patients with limb girdle muscular dystrophy 21 (LGMD21)".JOURNAL OF CLINICAL NEUROSCIENCE 18.4(2011):494-499.
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