Wird geladen...

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene

Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the c...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: AlSaman, Abdulaziz, Tomoum, Hoda, Invernizzi, Federica, Zeviani, Massimo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3409892/
https://ncbi.nlm.nih.gov/pubmed/22824774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1319-3767.98439
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!