Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations

Biallelic NARS2 mutations can cause various neurodegenerative diseases, leading to growth retardation, intractable epilepsy, and hearing loss in early infancy and further progressing to spastic paraplegia, neurodegeneration, and even death. NARS2 mutations are associated with mitochondrial dysfuncti...

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Detalles Bibliográficos
Autores principales: Hu, Wenjing, Fang, Hongjun, Peng, Yu, Li, Li, Guo, Danni, Tang, Jingwen, Yi, Jurong, Liu, Qingqing, Qin, Wei, Wu, Liwen, Ning, Zeshu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811187/
https://www.ncbi.nlm.nih.gov/pubmed/36620461
http://dx.doi.org/10.3389/fnins.2022.1076183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811187/
https://www.ncbi.nlm.nih.gov/pubmed/36620461
http://dx.doi.org/10.3389/fnins.2022.1076183

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