title: Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
abstract: The authors report on a family with dominantly inherited progressive external ophthalmoplegia and a diagnostic and statistical manual (fourth revised edition) diagnosis of bipolar psychiatric disorder in several members. Skeletal muscle biopsy from the proposita showed decreased cytochrome c oxidase staining, several ragged-red fibers, and multiple mtDNA deletions. The authors identified a missense mutation (leucine 98-->proline) in the adenine nucleotide translocator 1 gene. The presence of bipolar affective disorder expands the phenotype of adenine nucleotide translocator 1 allelic variants.
authors.affiliation: Neurological Institute, University of Pisa, Pisa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: S
authors.initials: S
authors.lastname: Petrini
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: G S
authors.initials: GS
authors.lastname: Grieco
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: L
authors.initials: L
authors.lastname: DeFlorio
authors.forename: B
authors.initials: B
authors.lastname: Martini
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: G
authors.initials: G
authors.lastname: Nappi
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: L
authors.initials: L
authors.lastname: Murri
mesh_terms: D033741:Adenine Nucleotide Translocator 1 / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D001706:Biopsy; D001714:Bipolar Disorder / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D003576:Electron Transport Complex IV / Q000145:classification / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007930:Leucine / Q000235:genetics; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D020125:Mutation, Missense; D009218:Myosins / Q000378:metabolism; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011392:Proline / Q000235:genetics
chemical_list: D033741:Adenine Nucleotide Translocator 1; D011392:Proline; D003576:Electron Transport Complex IV; D009218:Myosins; D007930:Leucine