1.
Transl Neurosci
; 13(1): 116-119, 2022 Jan 01.
Article
in English
| MEDLINE
| ID: mdl-35795194
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.