期刊
NEUROLOGY
卷 57, 期 12, 页码 2295-2298出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.57.12.2295
关键词
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资金
- Telethon [1180] Funding Source: Medline
Autosomal dominant progressive external ophthalmoplegia (adPEO) is caused by mutations in at least three different genes: ANT1 (chromosome 4q34-35), TWINKLE, and POLG. The ANT1 gene encodes the adenine nucleotide translocator-1 (ANT1). We identified a heterozygous T293C mutation of the ANT1 gene in a Greek family with adPEO. The resulting leucine to proline substitution likely modifies the secondary structure of the ANT1 protein. ANT1 gene mutations may account for adPEO in families with different ethnic backgrounds.
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