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A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant
- Source :
- Translational Neuroscience, Vol 13, Iss 1, Pp 116-119 (2022)
- Publication Year :
- 2022
- Publisher :
- De Gruyter, 2022.
-
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.
Details
- Language :
- English
- ISSN :
- 20816936 and 20220219
- Volume :
- 13
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Translational Neuroscience
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.20b8e3a35f8462fa5d57ce40015fc99
- Document Type :
- article
- Full Text :
- https://doi.org/10.1515/tnsci-2022-0219