Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

被引：117

作者：

Agostino, A

Valletta, L

Chinnery, PF

Ferrari, G

Carrara, F

Taylor, RW

Schaefer, AM

Turnbull, DM

Tiranti, V

Zeviani, M

机构：

[1] Natl Neurol Inst Carlo Besta, Unit Mol Neurogenet, Pierfranco & Luisa Mariani Ctr Study Childrens Mi, I-20126 Milan, Italy

[2] Univ Newcastle Upon Tyne, Dept Neurol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

来源：

NEUROLOGY | 2003年 / 60卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000056088.09408.3C

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions.

引用

页码：1354 / 1356

页数：3

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