A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia

作者:Souilem Sihem*; Chebel Saber; Mancuso Michelangelo; Petrozzi Lucia; Siciliano Gabriele; FrihAyed Mahbouba; Hentati Faycal; Amouri Rim
来源:Journal of the Neurological Sciences, 2011, 300(1-2): 187-190.
DOI:10.1016/j.jns.2010.08.065

摘要

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 PRO.

  • 出版日期2011-1-15