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From the Mitochondrial Research Group, Neurology, University of Newcastle upon Tyne, Medical School, Framlington Place, Newcastle upon Tyne, UK.
Address correspondence and reprint requests to Dr. Patrick F. Chinnery, Mitochondrial Research Group, Neurology, University of Newcastle upon Tyne, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK. p.f.chinnery{at}ncl.a.cuk
The authors studied seven patients with mitochondrial DNA (mtDNA) myopathy. Over time, there was a progressive depletion of mtDNA, which preferentially affected wild-type mitochondrial genomes. This suggests that loss of wild-type mtDNA is a major feature of mtDNA myopathy, and preventing wild-type mtDNA depletion has treatment implications.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the August 8 issue to find the title link for this article.
P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science. PFC also receives funding from Ataxia (UK), the Alzheimer's Research Trust, the Association Française contre les Myopathies, and the United Mitochondrial Diseases Federation, and the EU FP program EUmitocombat and MITOCIRCLE.
Disclosure: The authors report no conflicts of interest.
Received December 21, 2005. Accepted in final form March 27, 2006.
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A. Pyle, R. W Taylor, S. E Durham, M. Deschauer, A. M Schaefer, D. C Samuels, and P. F Chinnery Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation J. Med. Genet., January 1, 2007; 44(1): 69 - 74. [Abstract] [Full Text] [PDF] |
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