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

页码：454 / 455

页数：2

共 4 条

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[2] POLG Mutations in Sporadic Mitochondrial Disorders With Multiple mtDNA Deletions [J].

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Comi, Giacomo P. .

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 [J].

Lamantea, E ;

Tiranti, V ;

Bordoni, A ;

Toscano, A ;

Bono, F ;

Servidei, S ;

Papadimitriou, A ;

Spelbrink, H ;

Silvestri, L ;

Casari, G ;

Comi, GP ;

Zeviani, M .

ANNALS OF NEUROLOGY, 2002, 52 (02) :211-219

[4] Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy [J].

Van Goethem, G ;

Schwartz, M ;

Löfgren, A ;

Dermaut, B ;

Van Broeckhoven, C ;

Vissing, J .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (07) :547-549

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