Myopathies associated with thyroid disease
Aug. 17, 2022
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The patient had symmetrical facial weakness and ophthalmoparesis. This is case 1 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;28:373-7. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)