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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

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

Abstract

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.

PMID:
20186009
DOI:
10.1097/PDM.0b013e3181b00f02
[Indexed for MEDLINE]

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