Identification of a Novel Variant in MT-CO3 Causing MELAS

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disease. Most cases of MELAS are caused by the m.3243A > G variant in the MT-TL1 gene encoding tRNALeu((UUR)). However, the genetic cause in 10% of patients with MELAS is unk...

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Detalles Bibliográficos
Autores principales: Xu, Manting, Kopajtich, Robert, Elstner, Matthias, Wang, Zhaoxia, Liu, Zhimei, Wang, Junling, Prokisch, Holger, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8153374/
https://www.ncbi.nlm.nih.gov/pubmed/34054915
http://dx.doi.org/10.3389/fgene.2021.638749

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8153374/
https://www.ncbi.nlm.nih.gov/pubmed/34054915
http://dx.doi.org/10.3389/fgene.2021.638749

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