Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are significantly improving our chances to detect mutations even in sporadic patients. Syndromes associated with mitochondrial DNA multiple deletions...

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Bibliographische Detailangaben
Hauptverfasser: Ronchi, Dario, Garone, Caterina, Bordoni, Andreina, Gutierrez Rios, Purificacion, Calvo, Sarah E., Ripolone, Michela, Ranieri, Michela, Rizzuti, Mafalda, Villa, Luisa, Magri, Francesca, Corti, Stefania, Bresolin, Nereo, Mootha, Vamsi K., Moggio, Maurizio, DiMauro, Salvatore, Comi, Giacomo P., Sciacco, Monica
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2012
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501975/
https://ncbi.nlm.nih.gov/pubmed/23043144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws258
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