A novel missense adenine nucleotide translocator-1 gene mutation in a greek adPEO family

L. Napoli, A. Bordoni, M. Zeviani, G. M. Hadjigeorgiou, M. Sciacco, V. Tiranti, A. Terentiou, M. Moggio, A. Papadimitriou, G. Scarlato, G. P. Comi

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)2295-2298
Number of pages4
JournalNeurology
Volume57
Issue number12
Publication statusPublished - Dec 26 2001

ASJC Scopus subject areas

  • Neuroscience(all)

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    Napoli, L., Bordoni, A., Zeviani, M., Hadjigeorgiou, G. M., Sciacco, M., Tiranti, V., Terentiou, A., Moggio, M., Papadimitriou, A., Scarlato, G., & Comi, G. P. (2001). A novel missense adenine nucleotide translocator-1 gene mutation in a greek adPEO family. Neurology, 57(12), 2295-2298.