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J Neurol Sci. 2011 Jan 15;300(1-2):187-90. doi: 10.1016/j.jns.2010.08.065. Epub 2010 Sep 29.

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

Author information

1
Department of Molecular Neurobiology and Neuropathology, La Rabta, National Institute of Neurology, Tunis, Tunisia. sihemsouilem@yahoo.fr

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.

PMID:
20884012
DOI:
10.1016/j.jns.2010.08.065
[Indexed for MEDLINE]

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