@article{397154560cb6456db10a87e68e73030f,
title = "POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions",
abstract = "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.",
author = "G. Hudson and M. Deschauer and Taylor, \{R. W.\} and Hanna, \{M. G.\} and D. Fialho and Schaefer, \{A. M.\} and He, \{L. P.\} and E. Blakely and Turnbull, \{D. M.\} and Chinnery, \{P. F.\}",
note = "Funding Information: 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 Fran{\c c}aise 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. ",
year = "2006",
month = may,
doi = "10.1212/01.wnl.0000210486.32196.24",
language = "English",
volume = "66",
pages = "1439--1441",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "9",
}