PPFIA4 mutation: A second hit in POLG related disease?

Epilepsy in POLG related disease usually involves biallelic recessive mutations causing chronic neuronal loss and neuronal death. However, monoallelic POLG mutations have been reported in patients with neurological features such as seizures [1]. In these patients a second allele/gene was anticipated...

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Detalles Bibliográficos
Autores principales: Sourbron, Jo, Jansen, Katrien, Aerts, Nele, Lagae, Lieven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164014/
https://www.ncbi.nlm.nih.gov/pubmed/34095804
http://dx.doi.org/10.1016/j.ebr.2021.100455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164014/
https://www.ncbi.nlm.nih.gov/pubmed/34095804
http://dx.doi.org/10.1016/j.ebr.2021.100455

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