A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

BACKGROUND: Variants in the SLC25A1 gene are associated with a severe neurometabolic disease, D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). A report in 2014 presented the first account of congenital myasthenic syndrome (CMS) with mild intellectual disability (ID) caused by SLC25A1. To date, onl...

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Detalles Bibliográficos
Autores principales: Li, Wenhui, Zhang, Min, Zhang, Linmei, Shi, Yiyun, Zhao, Lei, Wu, Bingbing, Li, Xihua, Zhou, Shuizhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359281/
https://www.ncbi.nlm.nih.gov/pubmed/32660532
http://dx.doi.org/10.1186/s12883-020-01854-6

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