Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

Dario Ronchi, Elisa Fassone, Andreina Bordoni, Monica Sciacco, Valeria Lucchini, Alessio Di Fonzo, Mafalda Rizzuti, Irene Colombo, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Alessandra Cosi, Martina Collotta, Stefania Corti, Nereo Bresolin, Giacomo P. Comi

Research output: Contribution to journalArticlepeer-review


Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle. Here we describe clinical, histological and molecular features of two patients presenting with mitochondrial myopathy associated with PEO. PEO1 sequencing disclosed two novel mutations in exons 1 and 4 of the gene, respectively. Although mutations in PEO1 exon 1 have already been described, this is the first report of mutation occurring in exon 4.

Original languageEnglish
Pages (from-to)173-176
Number of pages4
JournalJournal of the Neurological Sciences
Issue number1-2
Publication statusPublished - Sept 15 2011


  • COX deficiency
  • Mitochondrial myopathy
  • mtDNA multiple deletions
  • PEO1 (C10ORF2)
  • Progressive external ophthalmoplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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