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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenine Nucleotide Translocator 1 / genetics*
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Adenine Nucleotide Translocator 1 / metabolism
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Adult
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Biopsy
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Bipolar Disorder / complications
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Bipolar Disorder / genetics*
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Bipolar Disorder / metabolism
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Blotting, Western
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Electron Transport Complex IV / classification
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Electron Transport Complex IV / metabolism
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Female
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Genes, Dominant
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Genetic Predisposition to Disease*
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Humans
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Immunohistochemistry
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Leucine / genetics
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Molecular Sequence Data
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Mutation, Missense
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Myosins / metabolism
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Ophthalmoplegia / complications
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Ophthalmoplegia / genetics*
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Ophthalmoplegia / metabolism
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Pedigree
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Proline / genetics
Substances
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Adenine Nucleotide Translocator 1
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Proline
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Electron Transport Complex IV
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Myosins
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Leucine