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

• Published in: Acta neuropathologica 2005-10, Vol.110 (4), p.426-430
• Main Authors: Müller, Tobias, Deschauer, Marcus, Neudecker, Stephan, Zierz, Stephan
• Format: Article
• Language: English
• Subjects: Adult; Alanine - genetics; Disease Progression; DNA Mutational Analysis - methods; DNA, Mitochondrial - genetics; DNA, Mitochondrial - metabolism; Family Health; Female; Glycine - genetics; Humans; Male; Middle Aged; Mitochondrial Myopathies - complications; Mitochondrial Myopathies - genetics; Mitochondrial Myopathies - pathology; Muscle, Skeletal - metabolism; Muscle, Skeletal - pathology; Muscle, Skeletal - ultrastructure; Mutation; RNA - genetics; RNA, Transfer, Ser - genetics
• ISSN: 0001-6322
• DOI: 10.1007/s00401-005-1063-z

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 specimens showed severe myopathic changes similar to those found in muscular dystrophies. Molecular analysis revealed a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene. In both patients, the proportion of mutated mitochondrial DNA in muscle was more than 97%. Mitochondrial disorder associated with the G7497A mutation has to be included into the differential diagnosis of severe progressive late-onset myopathy with histopathological dystrophic myopathic changes. Mitochondrial myopathy and high level of mutated mtDNA might be a characteristic of the G7497A tRNA(Ser(UCN)) mutation.