Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review-Reference-Cited by-同舟云学术

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Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review

Published:2016-08-24 Issue:10 Volume:57 Page:1531-1545
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Anagnostou Maria-Eleni¹,Ng Yi Shiau¹,Taylor Robert W.¹,McFarland Robert¹

Affiliation:

1. Wellcome Trust Centre for Mitochondrial Research; Institute of Neuroscience; Newcastle University; Newcastle upon Tyne United Kingdom

Funder

Wellcome Trust

Medical Research Council

The Lily Foundation

UK NHS Specialized Services

Newcastle upon Tyne Hospitals NHS Foundation Trust

Ryan Stanford Appeal

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13508/fullpdf

Reference80 articles.

1. Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma;Ropp;Genomics,1996

2. Functional human mitochondrial DNA polymerase γ forms a heterotrimer;Yakubovskaya;J Biol Chem,2006

3. Structural insights into human mitochondrial DNA replication and disease-related polymerase mutations;Lee;Cell,2009

4. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions;Van Goethem;Nat Genet,2001

5. Alpers-Huttenlocher syndrome;Saneto;Pediatr Neurol,2013

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