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mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

We studied two related infants with a fatal mitochondrial disease, affecting muscle in one and liver in the other. Quantitative analysis revealed a severe depletion of mtDNA in affected tissues. This genetic abnormality was also observed in muscle of an unrelated infant with myopathy and in muscle a...

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Detalhes bibliográficos
Main Authors: Moraes, C T, Shanske, S, Tritschler, H J, Aprille, J R, Andreetta, F, Bonilla, E, Schon, E A, DiMauro, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682992/
https://ncbi.nlm.nih.gov/pubmed/1998336
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