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

被引：85

作者：

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

机构：

[1] Univ Pisa, Neurol Inst, Pisa, Italy

[2] IRCCS Bambino Gesu, Rome, Italy

[3] Univ Genoa, IRCCS G Gaslini, Dept Pediat, Neuromuscular Serv, Genoa, Italy

[4] IRCCS C Mondino, Mondino Tor Vergata S Lucia Ctr, Pavia, Italy

[5] Univ Siena, Neurol Inst, I-53100 Siena, Italy

[6] Univ Roma La Sapienza, Dept Neurol ORL & Rehabil, Rome, Italy

来源：

NEUROMUSCULAR DISORDERS | 2003年 / 13卷 / 02期

关键词：

autosomal dominant progressive external ophthalmoplegia; adenine nucleotide translocator 1; mutation; bipolar disorder;

D O I：

10.1016/S0960-8966(02)00221-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：162 / 165

页数：4

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