Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.

Abstract excerpt

Mutations of mitochondrial tRNA genes are usually associated with multi-systemic disorders with onset of symptoms in childhood or early adulthood. Dystrophic myopathic changes are not typical features of these disorders. We report two siblings with a severe progressive myopathy of late onset without external ophthalmoplegia and without involvement of the central and peripheral nervous system. Muscle biopsy...

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