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POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

From the Mitochondrial Research Group, The Medical School, University of Newcastle upon Tyne, UK (G.H., R.W.T., A.M.S., L.-P.H., E.B., D.M.T., P.F.C.); Institute of Human Genetics, University of Newcastle upon Tyne, UK (P.F.C.); Department of Neurology, Martin-Luther-Universitaet Halle-Wittenberg, Halle/Saale, Germany (M.D.); and Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK (M.G.H., D.F.).

Address correspondence and reprint requests to Prof. Patrick F. Chinnery, Neurology M4104, The Medical School, Framlington Place, University of Newcastle upon Tyne, NE2 4HH, UK; e-mail: p.f.chinnery{at}ncl.ac.uk

The authors sequenced POLG1, C10ORF2, and ANT1 in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions. Causative mutations were identified in approximately10% of cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G). None had a mutation in C10ORF2 or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance.

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 May 9 issue to find the title link for this article.

P.F.C. is a Wellcome Trust Senior Fellow in Clinical Science. P.F.C. also receives funding from Ataxia (UK), the Alzheimer’s Research Trust, the Association Française contre les Myopathies, and the United Mitochondrial Diseases Foundation. R.W.T. and D.M.T. receive financial support from Newcastle upon Tyne Hospitals NHS Trust.

Disclosure: The authors report no conflicts of interest.

Received September 1, 2005. Accepted in final form January 19, 2006.

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