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学科主题: 临床医学
题名:
CLINICAL PHENOTYPE OF AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A FAMILY WITH A NOVEL MUTATION IN THE C10orf2 GENE
作者: 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
发表日期: 2010
DOI: 10.1002/mus.21439
卷: 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
所属项目编号: 30870864
项目资助者: National Science Foundation of China
WOS记录号: WOS:000273315600011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61123
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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