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

A. Agostino, L. Valletta, P. F. Chinnery, G. Ferrari, F. Carrara, R. W. Taylor, A. M. Schaefer, D. M. Turnbull, V. Tiranti, Massimo Zeviani

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1354-1356
Number of pages3
JournalNeurology
Volume60
Issue number8
Publication statusPublished - Apr 22 2003

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Chronic Progressive External Ophthalmoplegia
Mutation
Mitochondrial DNA
Genes
DNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., ... Zeviani, M. (2003). Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology, 60(8), 1354-1356.

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). / Agostino, A.; Valletta, L.; Chinnery, P. F.; Ferrari, G.; Carrara, F.; Taylor, R. W.; Schaefer, A. M.; Turnbull, D. M.; Tiranti, V.; Zeviani, Massimo.

In: Neurology, Vol. 60, No. 8, 22.04.2003, p. 1354-1356.

Research output: Contribution to journalArticle

Agostino, A, Valletta, L, Chinnery, PF, Ferrari, G, Carrara, F, Taylor, RW, Schaefer, AM, Turnbull, DM, Tiranti, V & Zeviani, M 2003, 'Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)', Neurology, vol. 60, no. 8, pp. 1354-1356.
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology. 2003 Apr 22;60(8):1354-1356.
Agostino, A. ; Valletta, L. ; Chinnery, P. F. ; Ferrari, G. ; Carrara, F. ; Taylor, R. W. ; Schaefer, A. M. ; Turnbull, D. M. ; Tiranti, V. ; Zeviani, Massimo. / Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). In: Neurology. 2003 ; Vol. 60, No. 8. pp. 1354-1356.
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