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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Detalles Bibliográficos
Publicado en:Ann Clin Transl Neurol
Autores principales: 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
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea: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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