A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report

The RARS2 gene encodes mitochondrial arginine-tRNA synthetase. Patients with variants of the RARS2 gene have pontocerebellar hypoplasia type 6 (PCH6), which is characterized by early onset seizures, progressive microcephaly, and developmental delay. PCH6 is a rare mitochondrial encephalopathy. To th...

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Detalles Bibliográficos
Autores principales: Xu, Yan, Wu, Bing-Bing, Wang, Hui-Jun, Zhou, Shui-Zhen, Cheng, Guo-Qiang, Zhou, Yuan-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658767/
https://www.ncbi.nlm.nih.gov/pubmed/33209735
http://dx.doi.org/10.21037/tp-20-110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658767/
https://www.ncbi.nlm.nih.gov/pubmed/33209735
http://dx.doi.org/10.21037/tp-20-110

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