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A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
Luan, Xinghua1; Hong, Daojun1; Zhang, Wei1; Wang, Zhaoxia1; Yuan, Yun1
关键词Filaminopathy Filamin c Lg-like Repeat Myofibrillar Myopathy Desmin Related Myopathy Limb-girdle Muscular Dystrophy
刊名NEUROMUSCULAR DISORDERS
2010-06-01
DOI10.1016/j.nmd.2010.03.009
20期:6页:390-396
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]MYOFIBRILLAR MYOPATHY ; SMOOTH-MUSCLE ; MUSCULAR-DYSTROPHY ; BINDING PROTEIN ; Z-DISC ; DIMERIZATION ; LOCALIZATION ; PHENOTYPE ; ISOFORMS ; MYOTILIN
英文摘要

Filaminopathy represents a rare subgroup of myofibrillar myopathies caused by mutation in filamin C gene. We present a Chinese family with filaminopathy, characterized by onset at the age of 35-40 years with progressive muscle weakness in all limbs. Mild cardiac symptoms and chronic diarrhea were present in a few patients. Muscle biopsy revealed numerous spheroid bodies and amorphous deposits in the fibers, which were positive for desmin, dysferlin, dystrophin and ubiquitin, but negative for alpha-actinin and alpha-synuclein. Ultrastructural analysis revealed inclusions composed of disorganized thin filaments and interspersed electron-dense granules, accumulating in spheroid or cytoplasmic structures. A novel complex mutation of 18-nucleotide deletion and 6-nucleotide insertion was identified in exon 18 of the filamin C gene, resulting in an in-frame 6 amino acid deletion (Lys899-Va1904) and a 2 amino acid insertion (Val 899-Cys900) in the seventh Ig-like repeat of filamin C. Our findings expand the genetic spectrum and geographic distribution of filaminopathy. (C) 2010 Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000279099100004
引用统计
被引频次:28[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/400002259/50291
专题北京大学第一临床医学院_神经内科
作者单位1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Neuropathol Lab, Beijing 100034, Peoples R China
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Luan, Xinghua,Hong, Daojun,Zhang, Wei,et al. A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family[J]. NEUROMUSCULAR DISORDERS,2010,20(6):390-396.
APA Luan, Xinghua,Hong, Daojun,Zhang, Wei,Wang, Zhaoxia,&Yuan, Yun.(2010).A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.NEUROMUSCULAR DISORDERS,20(6),390-396.
MLA Luan, Xinghua,et al."A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family".NEUROMUSCULAR DISORDERS 20.6(2010):390-396.
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