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Clinical picture of patient with a pathogenic SLC25A1 variant causing a congenital myasthenic syndrome with mild intellectual disability (2)

The patient had ptosis and mild facial weakness. This is case 2 from family 2. (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.)

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