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Article

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

Molecular vision - 1 Jan 2008

Liu Zhirong, Ding Yao, Du Ailian, Zhang Baorong, Zhao Guohua, Ding Meiping

Abstract excerpt

PURPOSE: Autosomal dominant progressive external ophthalmoplegia (adPEO) is a genetically heterogeneous, adult-onset disease. Thus far, disease loci have been identified on four different nuclear genes. The purpose of this study is to identify the gene responsible for causing adPEO in a Chinese family. METHODS: Clinical data and genomic DNA of a Chinese adPEO family were collected following informed consent. Gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 18989381
PMCID: PMC2579934

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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