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

@article{Napoli2001ANM,
  title={A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.},
  author={Laura Napoli and Andreina Bordoni and Massimo Zeviani and Georgios M. Hadjigeorgiou and Monica Sciacco and Valeria Tiranti and A Terentiou and M. Moggio and Alex Papadimitriou and G. Scarlato and Giacomo Comi},
  journal={Neurology},
  year={2001},
  volume={57 12},
  pages={2295-8}
}
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… CONTINUE READING