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...

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Detalles Bibliográficos
Autores principales: AlSaman, Abdulaziz, Tomoum, Hoda, Invernizzi, Federica, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409892/
https://www.ncbi.nlm.nih.gov/pubmed/22824774
http://dx.doi.org/10.4103/1319-3767.98439

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409892/
https://www.ncbi.nlm.nih.gov/pubmed/22824774
http://dx.doi.org/10.4103/1319-3767.98439

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