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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha: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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