TY  - JOUR
AU  - Karla Cárdenas-Soto
AU  - Alechka Arumir-Lira
AU  - Alejandra Gonzalez-Duarte
AU  - Rivera-De La Parra David
AU  - Pablo Hernandez Reyes
PY  - 2024
DA  - 2024/12/19
TI  - A Novel Transthyretin Variant (p.Phe-84-Tyr) for Hereditary Transthyretin Amyloidosis with Polyneuropathy and Early Ocular Findings
JO  - Case Reports and Reviews
VL  - 4
IS  - 3
AB  - Hereditary transthyretin amyloidosis (hATTR) is a rare disease that affects multiple systems and is
triggered by a mutation in the transthyretin (TTR) gene. This report introduces a new pathogenic
variant, Phe84Tyr, identified in a patient with no known family history of amyloidosis. The patient
exhibited polyneuropathy, cardiomyopathy, and significant ocular involvement, potentially a unique
characteristic of this variant.
SN  - 2693-1516
UR  - https://dx.doi.org/10.33425/2693-1516.1042
DO  - 10.33425/2693-1516.1042