Journal
DIAGNOSTIC MOLECULAR PATHOLOGY
Volume 19, Issue 1, Pages 28-32Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PDM.0b013e3181b00f02
Keywords
PEO; tRNA(Ser(UCN)); mitochondrial DNA
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We report a novel heteroplasmic mitochondrial DNA mutation in the tRNA(Ser(UCN)) 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.
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