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
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author 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
author_facet 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
author_sort Yan, Xian-rang
collection PubMed
description 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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spelling pubmed-91750142022-07-05 A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant 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 Transl Neurosci Letter to the Editor 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. De Gruyter 2022-06-07 /pmc/articles/PMC9175014/ /pubmed/35795194 http://dx.doi.org/10.1515/tnsci-2022-0219 Text en © 2022 Xian-rang Yan et al., published by De Gruyter https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License.
spellingShingle Letter to the Editor
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
A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
title A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
title_full A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
title_fullStr A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
title_full_unstemmed A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
title_short A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
title_sort patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(phe84ser) variant
topic Letter to the Editor
url 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
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