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.

Gespeichert in:

Autor*in:	Yan Xian-rang [verfasserIn] Hong Ming-fan [verfasserIn] Zhou Zhi-hua [verfasserIn] Liu Ai-qun [verfasserIn] Peng Zhong-xing [verfasserIn] Wu Wei-feng [verfasserIn] Jing Cheng [verfasserIn] Lin Jia-xiu [verfasserIn] Long Ying [verfasserIn] Yu Qing-yun [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	amyloid polyneuropathy familial amyloidosis peripheral disease transthyretin neuroelectrophysiology p.(phe64ser) p.(phe84ser)

Übergeordnetes Werk:	In: Translational Neuroscience - De Gruyter, 2015, 13(2022), 1, Seite 116-119
Übergeordnetes Werk:	volume:13 ; year:2022 ; number:1 ; pages:116-119

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1515/tnsci-2022-0219

Katalog-ID:	DOAJ006678939

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source	In Translational Neuroscience 13(2022), 1, Seite 116-119 volume:13 year:2022 number:1 pages:116-119
sourceStr	In Translational Neuroscience 13(2022), 1, Seite 116-119 volume:13 year:2022 number:1 pages:116-119
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	amyloid polyneuropathy familial amyloidosis peripheral disease transthyretin neuroelectrophysiology p.(phe64ser) p.(phe84ser) Neurosciences. Biological psychiatry. Neuropsychiatry
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callnumber-first	R - Medicine
author	Yan Xian-rang
spellingShingle	Yan Xian-rang misc RC321-571 misc amyloid polyneuropathy misc familial amyloidosis peripheral disease misc transthyretin misc neuroelectrophysiology misc p.(phe64ser) misc p.(phe84ser) misc Neurosciences. Biological psychiatry. Neuropsychiatry A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
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topic_title	RC321-571 A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant amyloid polyneuropathy familial amyloidosis peripheral disease transthyretin neuroelectrophysiology p.(phe64ser) p.(phe84ser)
topic	misc RC321-571 misc amyloid polyneuropathy misc familial amyloidosis peripheral disease misc transthyretin misc neuroelectrophysiology misc p.(phe64ser) misc p.(phe84ser) misc Neurosciences. Biological psychiatry. Neuropsychiatry
topic_unstemmed	misc RC321-571 misc amyloid polyneuropathy misc familial amyloidosis peripheral disease misc transthyretin misc neuroelectrophysiology misc p.(phe64ser) misc p.(phe84ser) misc Neurosciences. Biological psychiatry. Neuropsychiatry
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title	A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
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title_full	A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
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title_sort	patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(phe84ser) variant
callnumber	RC321-571
title_auth	A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
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.
abstractGer	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.
abstract_unstemmed	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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title_short	A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
url	https://doi.org/10.1515/tnsci-2022-0219 https://doaj.org/article/e20b8e3a35f8462fa5d57ce40015fc99 https://doaj.org/toc/2081-6936
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author2	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
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up_date	2024-07-03T22:20:13.227Z
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A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant

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