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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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Bibliografske podrobnosti
izdano v:Mol Genet Metab
Main Authors: Uittenbogaard, Martine, Brantner, Christine A., Fang, ZiShui, Wong, Lee-Jun C., Gropman, Andrea, Chiaramello, Anne
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Online dostop: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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