Sequence analysis of familial PEO shows additional mutations associated with the 752C→T and 3527C→T changes in the POLG1 gene

被引：17

作者：

Lamantea, E ^{[1
]}

Zeviani, M ^{[1
]}

机构：

[1] Natl Neurol Inst C Besta, Mariani Ctr Study Childrens Mitochondrial Disorde, Unit Mol Neurogenet Pierfranco & Luisa, Milan, Italy

来源：

ANNALS OF NEUROLOGY | 2004年 / 56卷 / 03期

关键词：

D O I：

10.1002/ana.20219

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

收藏

页码：454 / 455

页数：2

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[1] Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
Agostino, A
Valletta, L
Chinnery, PF
Ferrari, G
Carrara, F
Taylor, RW
Schaefer, AM
Turnbull, DM
Tiranti, V
Zeviani, M
[J]. NEUROLOGY, 2003, 60 (08) : 1354 - 1356
[2] POLG Mutations in Sporadic Mitochondrial Disorders With Multiple mtDNA Deletions
Di Fonzo, Alessio
Bordoni, Andreina
Crimi, Marco
Sara, Galbiati
Del Bo, Roberto
Bresolin, Nereo
Comi, Giacomo P.
[J]. HUMAN MUTATION, 2003, 22 (06) : 498 - 499
[3] Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
Lamantea, E
Tiranti, V
Bordoni, A
Toscano, A
Bono, F
Servidei, S
Papadimitriou, A
Spelbrink, H
Silvestri, L
Casari, G
Comi, GP
Zeviani, M
[J]. ANNALS OF NEUROLOGY, 2002, 52 (02) : 211 - 219
[4] Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
Van Goethem, G
Schwartz, M
Löfgren, A
Dermaut, B
Van Broeckhoven, C
Vissing, J
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (07) : 547 - 549