Lookup NU author(s): Professor Patrick Chinnery,
Professor Robert Taylor,
Dr Andrew Schaefer,
Professor Doug Turnbull
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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.
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
ISSN (print): 0028-3878
Publisher: Lippincott Williams & Wilkins
PubMed id: 12707443