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Article

Mutations of <i>ANT1</i> , <i>Twinkle</i> , and <i>POLG1</i> in sporadic progressive external ophthalmoplegia (PEO)

22 Apr 2003

Abstract excerpt

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...

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PMID: 12707443
DOI: 10.1212/01.wnl.0000056088.09408.3c

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