Nov. 23, 2022
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.
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;28:373-7. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)