RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS

被引：44

作者：

Fratter, C. ^{[3
]}

Raman, P.

Alston, C. L.

Blakely, E. L.

Craig, K.

Smith, C. ^{[3
]}

Evans, J. ^{[3
]}

Seller, A. ^{[3
]}

Czermin, B. ^{[4
]}

Hanna, M. G. ^{[5
]}

Poulton, J. ^{[6
]}

Brierley, C. ^{[7
]}

Staunton, T. G. ^{[8
]}

Turnpenny, P. D. ^{[9
]}

Schaefer, A. M.

Chinnery, P. F. ^{[2
]}

Horvath, R. ^{[2
]}

Turnbull, D. M.

Gorman, G. S.

Taylor, R. W. ^{[1
]}

机构：

[1] Newcastle Univ, Inst Ageing & Hlth, Sch Med, Mitochondrial Res Grp, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[3] Churchill Hosp, Oxford Med Genet Labs, Oxford OX3 7LJ, England

[4] Ctr Med Genet, Munich, Germany

[5] Inst Neurol, Dept Mol Neurosci, UCL MRC Ctr Neuromuscular Dis, London WC1N 3BG, England

[6] Univ Oxford, Nuffield Dept Obstet & Gynaecol, Oxford, England

[7] W Suffolk Hosp, Dept Neurol, Bury St Edmunds, Suffolk, England

[8] Norfolk & Norwich Univ Hosp, Dept Neurol, Norwich, Norfolk, England

[9] Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England

来源：

NEUROLOGY | 2011年 / 76卷 / 23期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1212/WNL.0b013e31821e558b

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：2032 / 2034

页数：3

共 7 条

[1] Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene [J].

Bornstein, Belen ;

Area, Estela ;

Flanigan, Kevin M. ;

Ganesh, Jaya ;

Jayakar, Parul ;

Swoboda, Kathryn J. ;

Coku, Jorida ;

Naini, Ali ;

Shanske, Sara ;

Tanji, Kurenal ;

Hirano, Michio ;

DiMauro, Salvatore .

NEUROMUSCULAR DISORDERS, 2008, 18 (06) :453-459

[2] Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion [J].

Bourdon, Alice ;

Minai, Limor ;

Serre, Valerie ;

Jais, Jean-Philippe ;

Sarzi, Emmanuelle ;

Aubert, Sophie ;

Chretien, Dominique ;

de Lonlay, Pascale ;

Paquis-Flucklinger, Veronique ;

Arakawa, Hirofumi ;

Nakamura, Yusuke ;

Munnich, Arnold ;

Rotig, Agnes .

NATURE GENETICS, 2007, 39 (06) :776-780

[3]

Chinnery Patrick F, 2008, Neuromuscul Disord, V18, P259, DOI 10.1016/j.nmd.2007.11.005

[4] The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO [J].

Fratter, C. ;

Gorman, G. S. ;

Stewart, J. D. ;

Buddles, M. ;

Smith, C. ;

Evans, J. ;

Seller, A. ;

Poulton, J. ;

Roberts, M. ;

Hanna, M. G. ;

Rahman, S. ;

Omer, S. E. ;

Klopstock, T. ;

Schoser, B. ;

Kornblum, C. ;

Czermin, B. ;

Lecky, B. ;

Blakely, E. L. ;

Craig, K. ;

Chinnery, P. F. ;

Turnbull, D. M. ;

Horvath, R. ;

Taylor, R. W. .

NEUROLOGY, 2010, 74 (20) :1619-1626

[5] A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion [J].

Kollberg, Gittan ;

Darin, Niklas ;

Benan, Karin ;

Moslemi, Ali-Reza ;

Lindal, Sigurd ;

Tulinius, Mar ;

Oldfors, Anders ;

Holme, Elisabeth .

NEUROMUSCULAR DISORDERS, 2009, 19 (02) :147-150

[6] Clinical and molecular features of mitochondrial DNA depletion syndromes [J].

Spinazzola, A. ;

Invernizzi, F. ;

Carrara, F. ;

Lamantea, E. ;

Donati, A. ;

DiRocco, M. ;

Giordano, I. ;

Meznaric-Petrusa, M. ;

Baruffini, E. ;

Ferrero, I. ;

Zeviani, M. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2009, 32 (02) :143-158

[7] A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions [J].

Tyynismaa, Henna ;

Ylikallio, Emil ;

Patel, Mehul ;

Molnar, Maria J. ;

Haller, Ronald G. ;

Suomalainen, Anu .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (02) :290-295

← 1 →