Journal
NEUROMUSCULAR DISORDERS
Volume 13, Issue 2, Pages 162-165Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(02)00221-3
Keywords
autosomal dominant progressive external ophthalmoplegia; adenine nucleotide translocator 1; mutation; bipolar disorder
Categories
Ask authors/readers for more resources
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. (C) 2002 Elsevier Science B.V. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available