Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene
Copyright policy )Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene
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.
- University of Genoa Italy
- Roma Tre University Italy
- Sapienza University of Rome Italy
- University of Pisa Italy
- Goa University India
Adult, Bipolar Disorder, Proline, Bipolar disorder, Biopsy, Blotting, Western, Molecular Sequence Data, Mutation, Missense, Myosins, Autosomal dominant progressive external ophthalmoplegia, Electron Transport Complex IV, Leucine, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Genes, Dominant, Ophthalmoplegia, Adenine Nucleotide Translocator 1, Immunohistochemistry, Adenine nucleotide translocator 1, Pedigree, Mutation, Adenine nucleotide translocator 1; Autosomal dominant progressive external ophthalmoplegia; Bipolar disorder; Mutation, Female
Adult, Bipolar Disorder, Proline, Bipolar disorder, Biopsy, Blotting, Western, Molecular Sequence Data, Mutation, Missense, Myosins, Autosomal dominant progressive external ophthalmoplegia, Electron Transport Complex IV, Leucine, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Genes, Dominant, Ophthalmoplegia, Adenine Nucleotide Translocator 1, Immunohistochemistry, Adenine nucleotide translocator 1, Pedigree, Mutation, Adenine nucleotide translocator 1; Autosomal dominant progressive external ophthalmoplegia; Bipolar disorder; Mutation, Female
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