Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism

Mitochondrial DNA (mtDNA) 3243A > G tRNALeu((UUR)) heteroplasmic mutation (m.3243A > G) exhibits clinically heterogeneous phenotypes. While the high mtDNA heteroplasmy exceeding a critical threshold causes mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes (MELAS) syndr...

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Detalles Bibliográficos
Autores principales: McMillan, Ryan P., Stewart, Sidney, Budnick, James A., Caswell, Clayton C., Hulver, Matthew W., Mukherjee, Konark, Srivastava, Sarika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453956/
https://www.ncbi.nlm.nih.gov/pubmed/30962477
http://dx.doi.org/10.1038/s41598-019-42262-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453956/
https://www.ncbi.nlm.nih.gov/pubmed/30962477
http://dx.doi.org/10.1038/s41598-019-42262-2

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