Send to

Choose Destination
Diagn Mol Pathol. 2010 Mar;19(1):28-32. doi: 10.1097/PDM.0b013e3181b00f02.

A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia.

Author information

Department of Molecular Neurobiology and Neuropathology La Rabta, National Institute of Neurology, Tunis, Tunisia.


We report a novel heteroplasmic mitochondrial DNA mutation in the tRNA gene at nucleotide 7458 (m.7458G>A) in a 26-year-old patient affected with sporadic progressive external ophthalmoplegia associated with dysphagia. Muscle biopsy showed a strong succinate dehydrogenase staining, ragged red fibers, and 15% of cytochrome c oxidase-negative fibers. Activities of mitochondrial respiratory chain complexes I+III and IV were reduced. The mutation was heteroplasmic (75%) in the muscle, but undetectable in accessible tissues from the patient and his maternal relatives. This report expands the molecular heterogeneity of progressive external ophthalmoplegia.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center