Sign Up for a Free Account

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

Sign Up for a Free Account For information on discounts, see Plans & Pricing

  • 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.

Clinical picture of patient with a pathogenic SLC25A1 variant causing a congenital myasthenic syndrome with mild intellectual disability (3)

The patient had severe ptosis with compensatory over-activation of the frontalis muscle as well as mild facial weakness. This is case 1 from family 3. (Source: Balaraju S, Töpf A, McMacken G, et al. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet 2020;28[3]:373-7. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)

Related Article

Related Media

Associated Disorders

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