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.

AUTOSOMAL DOMINANT EXTERNAL OPHTHALMOPLEGIA AND BIPOLAR AFFECTIVE DISORDER ASSOCIATED WITH A MUTATION IN THE ANT1 GENE

SICILIANO, GABRIELE;MANCUSO, MICHELANGELO;MURRI, LUIGI
2003

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.
Siciliano, Gabriele; Tessa, A; Petrini, S; Mancuso, Michelangelo; Bruno, C; Grieco, Gs; Malandrini, A; Deflorio, L; Martini, B; Federico, A; Nappi, G; Santorelli, Fm; Murri, Luigi
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11568/188278
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