Fig. 2From: A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variantsDistribution of 27 novel and previously published SLC25A1 variants (including our case in red). The upper panel of the schematic shows all pathogenic variants in patients in whom CMS was the main feature, while the mutations in the lower panel correspond to the individuals who had been diagnosed with D/L-2-HGABack to article page