Congenital Myasthenic Syndrome Associated With SLC25A1 Gene Variant: The First Reported Case in Saudi Arabia

We report the case of a two-year-old full-term girl of consanguineous Saudi parents, who had a history of poor sucking, hypotonia, and bilateral ptosis, as well as recurrent pediatric intensive care unit (PICU) admissions with apnea and global developmental delay and unremarkable family history. A g...

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Detalles Bibliográficos
Autores principales: Alzahrani, Ali Yahya B, Alghamdi, Linah Saleh Abbas, Alghamdi, Hanin Abdullah M, Hassan, Ahmed Fahmy, Alsehemi, Matar Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074331/
https://www.ncbi.nlm.nih.gov/pubmed/37033560
http://dx.doi.org/10.7759/cureus.35808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10074331/
https://www.ncbi.nlm.nih.gov/pubmed/37033560
http://dx.doi.org/10.7759/cureus.35808

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