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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: Academic Press 2011
الموضوعات:
Article
الوصول للمادة أونلاين: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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