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

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.