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学科主题临床医学
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
Zhao, Juan1; Wang, Zhaoxia1; Hong, Daojun2; Lv, He1; Zhang, Wei1; Chen, Juanjuan1; Yuan, Yun1
关键词Gne Myopathy Distal Myopathy With Rimmed Vacuoles Gne Gene Common Mutation Novel Mutation Muscle Magnetic Resonance Imaging
刊名JOURNAL OF THE NEUROLOGICAL SCIENCES
2015-07-15
DOI10.1016/j.jns.2015.04.028
354期:1-2页:21-26
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]INCLUSION-BODY MYOPATHY ; DISTAL MYOPATHY ; RIMMED VACUOLES ; GENE ; WEAKNESS
英文摘要

GNE myopathy is an autosomal recessive distal myopathy caused by biallelic mutation in the GNE gene. It shows great genetic heterogeneity among different ethnic groups. In this study, we summarized the mutational spectrum and clinical profiles in 35 unrelated GNE myopathy patients from mainland China. Molecular analysis revealed 16 novel (p.G47D, p.F66Y, p.E173A, p.Y186H, p.R246L, p.R263*, p.R306*, p.A366D, p.V512M, p.C520Y, p.G545R, p.G548S, p.V622G, p.A638P, IVS2 + 1G > A and c2112delC) and 13 reported mutations. Notably, the p.D176V mutation was detected in 65.7% (23/35) of this patient cohort, giving an allele frequency of 34.3% (24/70). We estimated the carrier frequency of p.D176V to be 0.19% (1/520) in the normal population, although haplotype analysis indicated no founder effect in the patients carrying p.D176V mutation. Clinically, 29 patients presented with the classic phenotype of predominant distal weakness, while six patients presented with atypical phenotype. However, muscle magnetic resonance imaging showed that the vastus lateralis was spared in both subgroups. In conclusion, p.D176V mutation in the GNE gene, which was the second most common mutation in Japanese patients, was the most common mutation in this cohort of Chinese patients. Novel GNE mutations found in this study expanded the mutational spectrum associated with GNE myopathy. There is phenotypic heterogeneity among patients with GNE myopathy, but muscle magnetic resonance imaging can be useful for differential diagnosis. (C) 2015 Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000356978600004
项目编号2011ZX09307-001-07
资助机构Ministry of Science and Technology of China
引用统计
被引频次:8[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/400002259/49892
专题北京大学第一临床医学院_神经内科
作者单位1.Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Nanchang, Jiangxi, Peoples R China
2.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
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Zhao, Juan,Wang, Zhaoxia,Hong, Daojun,et al. Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES,2015,354(1-2):21-26.
APA Zhao, Juan.,Wang, Zhaoxia.,Hong, Daojun.,Lv, He.,Zhang, Wei.,...&Yuan, Yun.(2015).Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.JOURNAL OF THE NEUROLOGICAL SCIENCES,354(1-2),21-26.
MLA Zhao, Juan,et al."Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy".JOURNAL OF THE NEUROLOGICAL SCIENCES 354.1-2(2015):21-26.
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