Novel mutations in DNA2 associated with myopathy and mtDNA instability

The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi‐catalytic protein involved in the removal of single strand DNA...

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Bibliographische Detailangaben
Veröffentlicht in:Ann Clin Transl Neurol
Hauptverfasser: Ronchi, Dario, Liu, Changwei, Caporali, Leonardo, Piga, Daniela, Li, Hongzhi, Tagliavini, Francesca, Valentino, Maria Lucia, Ferrò, Maria Teresa, Bini, Paola, Zheng, Li, Carelli, Valerio, Shen, Binghui, Comi, Giacomo Pietro
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
Schlagworte:
Brief Communications
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6764641/
https://ncbi.nlm.nih.gov/pubmed/31478350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50888
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