Partial tandem duplication of mtDNA–tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

An 80-year-old woman (PI) has been suffering of late onset progressive weakness and wasting of lower-limb muscles, accompanied by high creatine kinase levels in blood. A muscle biopsy, performed at 63 years, showed myopathic features with partial deficiency of cytochrome c oxidase. A second biopsy t...

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Detalles Bibliográficos
Autores principales: Arzuffi, Paola, Lamperti, Costanza, Fernandez-Vizarra, Erika, Tonin, Paola, Morandi, Lucia, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334271/
https://www.ncbi.nlm.nih.gov/pubmed/22227277
http://dx.doi.org/10.1016/j.nmd.2011.07.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334271/
https://www.ncbi.nlm.nih.gov/pubmed/22227277
http://dx.doi.org/10.1016/j.nmd.2011.07.009

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