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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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| 出版年: | Ann Clin Transl Neurol |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | 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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