| Title | CLINICAL PHENOTYPE OF AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A FAMILY WITH A NOVEL MUTATION IN THE C10orf2 GENE |
| Authors | Hong, Daojun Bi, Hongyan Yao, Sheng Wang, Zhaoxia Yuan, Yun |
| Affiliation | Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China. Capital Med Univ, Dept Neurol, Friendship Hosp, Beijing, Peoples R China. Peking Univ, Hosp 1, Dept Neurol, 8 Xishiku St, Beijing 100034, Peoples R China. |
| Keywords | progressive external ophthalmoplegia mitochondrion C10orf2 gene autosomal dominant cardiac abnormality MITOCHONDRIAL-DNA DELETIONS TWINKLE GENE MULTIPLE DELETIONS HELICASE TWINKLE MTDNA DELETIONS SWISS-MODEL PROTEIN REGION POLG FEATURES |
| Issue Date | 2010 |
| Publisher | 肌肉与神经 |
| Citation | MUSCLE & NERVE.2010,41,(1),92-99. |
| Abstract | 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 |
| URI | http://hdl.handle.net/20.500.11897/160275 |
| ISSN | 0148-639X |
| DOI | 10.1002/mus.21439 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 第一医院 |
