Abstract
We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser). Only four cases with this variant have been reported before.
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Yan, X. R., Hong, M. F., Zhou, Z. H., Liu, A. Q., Peng, Z. X., Wu, W. F., … Yu, Q. Y. (2022). A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant. Translational Neuroscience, 13(1), 116–119. https://doi.org/10.1515/tnsci-2022-0219
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