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Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and progressive external ophthalmoplegia (PEO) are established phenotypes of mitochondrial disorders. They are maternally-inherited, multisystem disorder that is characterized by variable clinical, biochemical, and imagi...

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Detalles Bibliográficos
Autores principales: Zhao, Qiu Yan, Zhang, Wen Zhao, Zhu, Xue Lian, Qiao, Fei, Jia, Li Yuan, Li, Bi, Xiao, Yong, Chen, Han, Zhang, Yu, Chen, Yun Guo, Wang, Yong Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9414032/
https://www.ncbi.nlm.nih.gov/pubmed/36034288
http://dx.doi.org/10.3389/fneur.2022.927823