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Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

Authors: Siciliano, G  Tessa, A  Petrini, S  Mancuso, M  Bruno, C  Grieco, GS  Malandrini, A  DeFlorio, L  Martini, B  Federico, A  Nappi, G  Santorelli, FM  Murri, L 
Citation: Siciliano G, etal., Neuromuscul Disord. 2003 Feb;13(2):162-5.
Pubmed: (View Article at PubMed) PMID:12565915

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.

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RGD Object Information
RGD ID: 1580622
Created: 2006-08-17
Species: All species
Last Modified: 2006-08-17
Status: ACTIVE



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