Back to Search
Start Over
A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.
- Source :
-
Translational neuroscience [Transl Neurosci] 2022 Jun 07; Vol. 13 (1), pp. 116-119. Date of Electronic Publication: 2022 Jun 07 (Print Publication: 2022). - Publication Year :
- 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.<br />Competing Interests: Conflict of interest: Authors state no conflict of interest<br /> (© 2022 Xian-rang Yan et al., published by De Gruyter.)
Details
- Language :
- English
- ISSN :
- 2081-3856
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Translational neuroscience
- Publication Type :
- Academic Journal
- Accession number :
- 35795194
- Full Text :
- https://doi.org/10.1515/tnsci-2022-0219