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Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families
Ma, Yinan1; Fang, Fang2; Cao, Yanyan1; Yang, Yanling3; Zou, Liping4; Zhang, Ying1; Wang, Songtao1; Zhu, Sainan5; Xu, Yufeng1; Pei, Pei1; Qi, Yu1
关键词Mitochondrion M.3243a &Gt g Mutation Melas Urine Family China
刊名JOURNAL OF THE NEUROLOGICAL SCIENCES
2010-04-15
DOI10.1016/j.jns.2010.01.012
291期:1-2页:17-21
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]LACTIC-ACIDOSIS ; MELAS MUTATION ; EPISODES MELAS ; DISEASE ; ENCEPHALOPATHY ; A3243G ; PRESENTATIONS ; PHENOTYPE ; MYOPATHY ; CELLS
英文摘要

m.3243A>G mutation in mitochondrial DNA is the most common pathogenic point mutation, causing a variety of phenotypes. To further elucidate its clinical characteristics, we recruited 47 Chinese families carrying m.3243A>G mutation and analyzed their symptoms, disease history, inheritance, and mitochondria-related complications. In the probands, lactic acidosis, myopathy, seizures, short stature, weight loss and hirsutism were the most common clinical features. In their mothers, lactic acidosis, exercise intolerance, short stature and weight loss were the frequent manifestations, and normal phenotype was found in 59.6% mothers. m.3243A>G mutation was detected in 47 probands and 42 mothers. In the probands, the mutation ratio in blood was threefold higher and the ratio in urine was twofold higher than those of their mothers. m.3243A>G mutation ratio in mothers′ urine and in their probands′ blood were weakly correlated. In conclusion, (a) stroke-like episode induced by m.3243A>G mutation may be the symptom predominantly found in older patients; (b) m.3243A>G mutation ratio correlates with the severity of the disease; (c) m.3243A>G mutation ratio in mothers′ urine may correlate to the ratio in blood in their offspring. (C) 2010 Elsevier B.V. All rights reserved.

语种英语
WOS记录号WOS:000276624200004
项目编号30700912
资助机构National Natural Science Foundation of China ; Peking University First Hospital
引用统计
被引频次:13[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/400002259/53760
专题北京大学第一临床医学院_中心实验室
北京大学第一临床医学院_儿科
北京大学第一临床医学院_医学影像科
作者单位1.Peking Univ, Hosp 1, Dept Cent Lab, Beijing 100034, Peoples R China
2.Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China
3.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
4.Peking Univ, Hosp 1, Dept Stat, Beijing 100034, Peoples R China
5.Gen Hosp Peoples Liberat Army, Dept Pediat, Beijing 100853, Peoples R China
推荐引用方式
GB/T 7714
Ma, Yinan,Fang, Fang,Cao, Yanyan,et al. Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES,2010,291(1-2):17-21.
APA Ma, Yinan.,Fang, Fang.,Cao, Yanyan.,Yang, Yanling.,Zou, Liping.,...&Qi, Yu.(2010).Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families.JOURNAL OF THE NEUROLOGICAL SCIENCES,291(1-2),17-21.
MLA Ma, Yinan,et al."Clinical features of mitochondrial DNA m.3243A > G mutation in 47 Chinese families".JOURNAL OF THE NEUROLOGICAL SCIENCES 291.1-2(2010):17-21.
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