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

Lookup NU author(s): Dr Gavin Hudson, Professor Robert Taylor, Dr Andrew Schaefer, Emeritus Professor Doug Turnbull, Professor Patrick Chinnery


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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. Copyright © 2006 by AAN Enterprises, Inc.

Publication metadata

Author(s): Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He L-P, Blakely E, Turnbull DM, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2006

Volume: 66

Issue: 9

Pages: 1439-1441

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/01.wnl.0000210486.32196.24

PubMed id: 16682683


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Funder referenceFunder name
074454Wellcome Trust