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Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
In this study, we report a novel perpective of metabolic consequences for the m.8993T > G variant using fibroblasts from a proband with clinical symptoms compatible with Maternally Inherited Leigh Syndrome (MILS). Definitive diagnosis was corroborated by mitochondrial DNA testing for the pathogen...
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| Veröffentlicht in: | Mol Genet Metab |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6016550/ https://ncbi.nlm.nih.gov/pubmed/29602698 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.03.011 |
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