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CLINICAL PHENOTYPE OF AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A FAMILY WITH A NOVEL MUTATION IN THE C10orf2 GENE
Hong, Daojun1; Bi, Hongyan2; Yao, Sheng1; Wang, Zhaoxia1; Yuan, Yun1
关键词progressive external ophthalmoplegia mitochondrion C10orf2 gene autosomal dominant cardiac abnormality
刊名MUSCLE & NERVE
2010
DOI10.1002/mus.21439
41期:1页:92-99
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]MITOCHONDRIAL-DNA DELETIONS ; TWINKLE GENE ; MULTIPLE DELETIONS ; HELICASE TWINKLE ; MTDNA DELETIONS ; SWISS-MODEL ; PROTEIN ; REGION ; POLG ; FEATURES
英文摘要

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder caused by mutations in nuclear genes. Here we report the clinical and genetic features of adPEO in a Chinese family. All patients had gradual onset of ptosis, with or without ophthalmoplegia, around age 30. Thirteen patients had limb weakness around age 40. Eight patients developed dysphagia around age 50. Four patients died of cardiac abnormalities around age 60. Muscle biopsy of the proband indicated mitochondrial myopathy characterized by ragged-red fibers, cytochrome c oxidase-negative fibers, and multiple deletions of mitochondrial DNA. A heterozygous missense mutation of c.1342A>G in the C10orf2 gene resulting in the p.448N>D mutation in the protein was found in the proband and four other affected family members. In summary, we identified an adPEO family with a novel C10orf2 gene mutation that manifested an age-dependent phenotype. It suggests that greater attention must be paid to cardiac abnormalities in the late stages of this disease. Muscle Nerve 41: 92-99, 2010

语种英语
WOS记录号WOS:000273315600011
项目编号30870864
资助机构National Science Foundation of China
引用统计
被引频次:6[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/400002259/61123
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.Capital Med Univ, Dept Neurol, Friendship Hosp, Beijing, Peoples R China
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GB/T 7714
Hong, Daojun,Bi, Hongyan,Yao, Sheng,et al. CLINICAL PHENOTYPE OF AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A FAMILY WITH A NOVEL MUTATION IN THE C10orf2 GENE[J]. MUSCLE & NERVE,2010,41(1):92-99.
APA Hong, Daojun,Bi, Hongyan,Yao, Sheng,Wang, Zhaoxia,&Yuan, Yun.(2010).CLINICAL PHENOTYPE OF AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A FAMILY WITH A NOVEL MUTATION IN THE C10orf2 GENE.MUSCLE & NERVE,41(1),92-99.
MLA Hong, Daojun,et al."CLINICAL PHENOTYPE OF AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A FAMILY WITH A NOVEL MUTATION IN THE C10orf2 GENE".MUSCLE & NERVE 41.1(2010):92-99.
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