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学科主题: 临床医学
题名:
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy
作者: Tan, Dandan1,2; Yang, Haipo1; Yuan, Yun3; Bonnemann, Carsten4; Chang, Xingzhi1; Wang, Shuang1; Wu, Yuchen2; Wu, Xiru1; Xiong, Hui1
刊名: PLOS ONE
发表日期: 2015-06-22
DOI: 10.1371/journal.pone.0129699
卷: 10, 期:6
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: LAMIN A/C MUTATIONS ; GENE-MUTATIONS ; DROPPED HEAD ; TISSUE ; INVOLVEMENT ; DEFECTS ; DEATH
英文摘要:

This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD). The clinical and myopathological data of 21 Chinese pediatric patients with early-onset LMNA-related MD were collected and analyzed. LMNA gene mutation analysis was performed by direct sequencing of genomic DNA. Sublocalization of wild-type and mutant proteins were observed by immunofluorescence using cultured fibroblasts and human embryonic kidney 293 (HEK 293) cell. Seven patients were diagnosed with Emery-Dreifuss muscular dystrophy (EDMD) and 14 were diagnosed with LMNA-associated congenital muscular dystrophy (L-CMD). Four biopsy specimens from the L-CMD cases exhibited inflammatory changes. Abnormal nuclear morphology was observed with both transmission electron microscopy and lamin A/C staining. We identified 10 novel and nine known LMNA gene mutations in the 21 patients. Some mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C) were well correlated with EDMD or L-CMD. LMNA-related MD has a common symptom triad of muscle weakness, joint contractures, and cardiac involvement, but the severity of symptoms and disease progression differ greatly. Inflammatory change in biopsied muscle is a characteristic of early-stage L-CMD. Phenotype-genotype analysis determines that some mutations are well correlated with LMNA-related MD.

语种: 英语
所属项目编号: 81271400 ; 2012CB944602
项目资助者: National Natural Science Foundation of China ; National Basic Research Program of China
WOS记录号: WOS:000356835800036
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52599
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
2.Nanchang Univ, Affiliated Hosp 1, Dept Neurol, Nanchang, Peoples R China
3.Peking Univ, Hosp 1, Dept Neurol, Beijing 100871, Peoples R China
4.NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USA

Recommended Citation:
Tan, Dandan,Yang, Haipo,Yuan, Yun,et al. Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy[J]. PLOS ONE,2015,10(6).
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