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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226962/
https://www.ncbi.nlm.nih.gov/pubmed/22027147
http://dx.doi.org/10.1016/j.bbrc.2011.10.049

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