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

G. Siciliano, A. Tessa, S. Petrini, M. Mancuso, C. Bruno, G. S. Grieco, A. Malandrini, L. DeFlorio, B. Martini, A. Federico, G. Nappi, F. M. Santorelli, L. Murri

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)162-165
Number of pages4
JournalNeuromuscular Disorders
Volume13
Issue number2
DOIs
Publication statusPublished - Feb 2003

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Keywords

  • Adenine nucleotide translocator 1
  • Autosomal dominant progressive external ophthalmoplegia
  • Bipolar disorder
  • Mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Siciliano, G., Tessa, A., Petrini, S., Mancuso, M., Bruno, C., Grieco, G. S., Malandrini, A., DeFlorio, L., Martini, B., Federico, A., Nappi, G., Santorelli, F. M., & Murri, L. (2003). Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. Neuromuscular Disorders, 13(2), 162-165. https://doi.org/10.1016/S0960-8966(02)00221-3