期刊
NEUROMUSCULAR DISORDERS
卷 13, 期 2, 页码 162-165出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(02)00221-3
关键词
autosomal dominant progressive external ophthalmoplegia; adenine nucleotide translocator 1; mutation; bipolar disorder
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.
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