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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Main Authors: 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
Jezik:Inglês
Izdano: Academic Press 2011
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Article
Online dostop: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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