Possible Role of Mitochondrial Transfer RNA Gene 5816 A > G Genetic Polymorphism (m.5816A > G) in a 3-Year-Old Child with Dystonia: Report of a Case

Background  Mutations in the mitochondrial transfer RNA (mt-tRNA) gene are a hotspot for mitochondrial DNA (mtDNA) mutations and are most common in mitochondrial diseases. Methods  We identified the mt-tRNA gene 5816 A > G (m.5816 A > G) mutation in a 3-year-old child with dystonia who died. W...

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Detalles Bibliográficos
Autores principales: Wang, Sumei, Liang, Minglu, Ma, Jiehui, Huang, Sheng, Fan, Lili, Zhu, Feng, Sun, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10533220/
https://www.ncbi.nlm.nih.gov/pubmed/37771542
http://dx.doi.org/10.1055/s-0043-1774708

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10533220/
https://www.ncbi.nlm.nih.gov/pubmed/37771542
http://dx.doi.org/10.1055/s-0043-1774708

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