| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1914404 | Journal of the Neurological Sciences | 2011 | 4 Pages |
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. 4308GÂ >Â A mutation in the transfer RNA isoleucine gene (MT-TI gene). Our report expands the genetic heterogeneity of PEO.
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Authors
Sihem Souilem, Saber Chebel, Michelangelo Mancuso, Lucia Petrozzi, Gabriele Siciliano, Mahbouba FrihAyed, Faycal Hentati, Rim Amouri,