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Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene by Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan is a Medicine article available to read on EtoBox.

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## 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, 2010

Who reads Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene?

Author

Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0148-639X)

Published

2009

Language

EN

Field

Medicine (Health Sciences)