FARS2 Mutations: More Than Two Phenotypes? A Case Report

FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. This report describes a distinctive phenotype of FARS2-linke...

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Detalles Bibliográficos
Autores principales: Hotait, Mostafa, Nasreddine, Wassim, El-Khoury, Riyad, Dirani, Maya, Nawfal, Omar, Beydoun, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7387725/
https://www.ncbi.nlm.nih.gov/pubmed/32774346
http://dx.doi.org/10.3389/fgene.2020.00787

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7387725/
https://www.ncbi.nlm.nih.gov/pubmed/32774346
http://dx.doi.org/10.3389/fgene.2020.00787

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