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We screened the <jats:italic>POLG1<\/jats:italic> gene in several PEO families and identified five different heterozygous missense mutations of <jats:italic>POLG1<\/jats:italic> in 10 autosomal dominant families. Recessive mutations were found in three families. Our data show that mutations of <jats:italic>POLG1<\/jats:italic> are the most frequent cause of familial progressive external ophthalmoplegia associated with accumulation of multiple mitochondrial DNA deletions, accounting for approximately 45% of our family cohort.<\/jats:p>","DOI":"10.1002\/ana.10278","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:53:08Z","timestamp":1033905188000},"page":"211-219","source":"Crossref","is-referenced-by-count":213,"title":["Mutations of mitochondrial DNA polymerase \u03b3A are a frequent cause of autosomal dominant or recessive progressive external 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