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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

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

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Abstract

To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions.


Publication metadata

Author(s): Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2003

Volume: 60

Issue: 8

Pages: 1354-1356

ISSN (print): 0028-3878

ISSN (electronic):

Publisher: Lippincott Williams & Wilkins

PubMed id: 12707443


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