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  • Title: A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia.
    Author: Souilem S, Chebel S, Mancuso M, Petrozzi L, Siciliano G, FrihAyed M, Hentati F, Amouri R.
    Journal: J Neurol Sci; 2011 Jan 15; 300(1-2):187-90. PubMed ID: 20884012.
    Abstract:
    We have sequenced the entire mitochondrial DNA (mtDNA) from a 54-year-old man with chronic progressive external ophthalmoplegia (PEO) and hyperCKemia. Muscle biopsy showed ragged red and SDH positive/COX negative fibres, and the biochemistry was suggestive mitochondrial respiratory chain dysfunction. Analysis of mtDNA revealed a heteroplasmic m. 4308G>A mutation in the transfer RNA isoleucine gene (MT-TI gene). Our report expands the genetic heterogeneity of PEO.
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