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Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy revealed extensive histopathological findings includ...

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Detalles Bibliográficos
Autores principales:	Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519577/ https://www.ncbi.nlm.nih.gov/pubmed/25873012 http://dx.doi.org/10.1038/ejhg.2015.73

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