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A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.
- Source :
- Translational Neuroscience; Jan2022, Vol. 13 Issue 1, p116-119, 4p
- 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 20813856
- Volume :
- 13
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Translational Neuroscience
- Publication Type :
- Academic Journal
- Accession number :
- 158008823
- Full Text :
- https://doi.org/10.1515/tnsci-2022-0219