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Impairment of mitochonrial tRNA(Ile) processing by a novel mutation associated with chronic progressive external ophthalmoplegia

We report a sporadic case of chronic progressive external ophthalmoplegia associated with ragged red fibers. The patient presented with enlarged mitochondria with deranged internal architecture and crystalline inclusions. Biochemical studies showed reduced activities of complex I, III and IV in skel...

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Detalhes bibliográficos
Main Authors: Schaller, A, Desetty, R, Hahn, D, Jackson, C B, Nuoffer, J-M, Gallati, S, Levinger, L
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3075320/
https://ncbi.nlm.nih.gov/pubmed/21292040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2011.01.005
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