Article
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
BMC neurology - 13 Jul 2020
Li Wenhui, Zhang Min, Zhang Linmei, Shi Yiyun, Zhao Lei, Wu Bingbing, Li Xihua, Zhou Shuizhen
Abstract excerpt
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, only two missense variants in SLC25A1 have been linked to CMS. CASE PRESENTATIONS: A Chinese boy presented fatigable...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.