Sign Up for a Free Account

This is an image preview.
Start a Free Account
to view the full image.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

  • Listen to MedLink on the go with Audio versions of each article.

Distribution of 27 novel and previously published SLC25A1 variants

The upper panel of the schematic shows all pathogenic variants in patients in whom a congenital myasthenic syndrome was the main feature, whereas the mutations in the lower panel are the pathogenic variants in patients diagnosed with D/L-2-HGA. (Source: Li W, Zhang M, Zhang L, et al. 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 Neurol 2020;20[1]:278. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0. The figure has been modified by Dr. Douglas J Lanska.)

Related Article

Associated Disorders

  • Ataxia
  • Cardiomyopathy
  • Cerebellar atrophy
  • Dystonia
  • Mental retardation
  • Primary brain tumors
  • Progressive intellectual deterioration
  • Seizures
  • Subcortical leukoencephalopathy