Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in t...

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Autors principals: Bianchi, Marzia, Rizza, Teresa, Verrigni, Daniela, Martinelli, Diego, Tozzi, Giulia, Torraco, Alessandra, Piemonte, Fiorella, Dionisi-Vici, Carlo, Nobili, Valerio, Francalanci, Paola, Boldrini, Renata, Callea, Francesco, Santorelli, Filippo Maria, Bertini, Enrico, Carrozzo, Rosalba
Format: Artigo
Idioma:Inglês
Publicat: Academic Press 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3226962/
https://ncbi.nlm.nih.gov/pubmed/22027147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2011.10.049
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