What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?-Reference-Cited by-同舟云学术

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Published:2012-12 Issue:12 Volume:135 Page:3614-3626
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Neeve Vivienne C. M.,Samuels David C.,Bindoff Laurence A.,van den Bosch Bianca,Van Goethem Gert,Smeets Hubert,Lombès Anne,Jardel Claude,Hirano Michio,DiMauro Salvatore,De Vries Maaike,Smeitink Jan,Smits Bart W.,de Coo Ireneus F. M.,Saft Carsten,Klopstock Thomas,Keiling Bianca-Cortina,Czermin Birgit,Abicht Angela,Lochmüller Hanns,Hudson Gavin,Gorman Grainne G.,Turnbull Doug M.,Taylor Robert W.,Holinski-Feder Elke,Chinnery Patrick F.,Horvath Rita

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/135/12/3614/17347597/aws298.pdf

Reference39 articles.

1. Mitochondrial function and pathology in status epilepticus;Bindoff;Epilepsia,2011

2. The unfolding clinical spectrum of POLG mutations;Blok;J Med Genet,2009

3. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit;Chan;J Biol Chem,2005

4. 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands;Chinnery;Neuromuscul Disord,2008

5. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders;Cohen;Methods,2010

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