Pure autonomic failure
Apr. 24, 2023
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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.)