title: A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
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.
authors.affiliation: Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Napoli
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: G M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: M
authors.initials: M
authors.lastname: Sciacco
authors.forename: V
authors.initials: V
authors.lastname: Tiranti
authors.forename: A
authors.initials: A
authors.lastname: Terentiou
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D033741:Adenine Nucleotide Translocator 1 / Q000235:genetics*; D000328:Adult; D000368:Aged; D001706:Biopsy; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D033741:Adenine Nucleotide Translocator 1