A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation

INTRODUCTION: G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a novel composition of two heterozygous mutations of G...

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Detalles Bibliográficos
Autores principales: You, Cuiping, Xu, Na, Qiu, Shiyan, Li, Yufen, Xu, Liyun, Li, Xia, Yang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559602/
https://www.ncbi.nlm.nih.gov/pubmed/32776492
http://dx.doi.org/10.1002/brb3.1791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559602/
https://www.ncbi.nlm.nih.gov/pubmed/32776492
http://dx.doi.org/10.1002/brb3.1791

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