A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant

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.

Detalles Bibliográficos
Autores principales: Yan, Xian-rang, Hong, Ming-fan, Zhou, Zhi-hua, Liu, Ai-qun, Peng, Zhong-xing, Wu, Wei-feng, Jing, Cheng, Lin, Jia-xiu, Long, Ying, Yu, Qing-yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175014/
https://www.ncbi.nlm.nih.gov/pubmed/35795194
http://dx.doi.org/10.1515/tnsci-2022-0219
Descripción
Sumario: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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