Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy

被引：17

作者：

Hisama, FM

Mancuso, M

Filosto, M

DiMauro, S

机构：

[1] Yale Univ, Sch Med, Dept Neurol, Neurogenet Program, New Haven, CT 06520 USA

[2] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 135A卷 / 02期

关键词：

D O I：

10.1002/ajmg.a.30672

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

引用

页码：217 / 219

页数：3

共 9 条

[1]

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ [J].

Filosto, M ;

Mancuso, M ;

Nishigaki, Y ;

Pancrudo, J ;

Harati, Y ;

Gooch, C ;

Mankodi, A ;

Bayne, L ;

Bonilla, E ;

Shanske, S ;

Hirano, M ;

DiMauro, S .

ARCHIVES OF NEUROLOGY, 2003, 60 (09) :1279-1284

[2]

Role of adenine nucleotide translocator 1 in mtDNA maintenance [J].

Kaukonen, J ;

Juselius, JK ;

Tiranti, V ;

Kyttälä, A ;

Zeviani, M ;

Comi, GP ;

Keränen, S ;

Peltonen, L ;

Suomalainen, A .

SCIENCE, 2000, 289 (5480) :782-785

[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]

Active site mutation in DNA polymerase γ associated with progressive external ophthalmoplegia causes error-prone DNA synthesis [J].

Ponamarev, MV ;

Longley, MJ ;

Nguyen, D ;

Kunkel, TA ;

Copeland, WC .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (18) :15225-15228

[5]

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria [J].

Spelbrink, JN ;

Li, FY ;

Tiranti, V ;

Nikali, K ;

Yuan, QP ;

Tariq, M ;

Wanrooij, S ;

Garrido, N ;

Comi, G ;

Morandi, L ;

Santoro, L ;

Toscano, A ;

Fabrizi, GM ;

Somer, H ;

Croxen, R ;

Beeson, D ;

Poulton, L ;

Suomalainen, A ;

Jacobs, HT ;

Zeviani, M ;

Larsson, C .

NATURE GENETICS, 2001, 28 (03) :223-231

[6]

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease [J].

Suomalainen, A ;

Majander, A ;

Wallin, M ;

Setala, K ;

Kontula, K ;

Leinonen, H ;

Salmi, T ;

Paetau, A ;

Haltia, M ;

Valanne, L ;

Lonnqvist, J ;

Peltonen, L ;

Somer, H .

NEUROLOGY, 1997, 48 (05) :1244-1253

[7]

Diseases caused by nuclear genes affecting mtDNA stability [J].

Suomalainen, A ;

Kaukonen, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 106 (01) :53-61

[8]

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions [J].

Van Goethem, G ;

Dermaut, B ;

Löfgren, A ;

Martin, JJ ;

Van Broeckhoven, C .

NATURE GENETICS, 2001, 28 (03) :211-212

[9]

ZEVIANI M, 1990, AM J HUM GENET, V47, P904

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