hereditary transthyretin-mediated amyloidosis(English)
- a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. It represents a diagnostic challenge for neurologists considering the great variability in clinical presentation and multiorgan involvement. Formerly known as familial amyloid polyneuropathy
- AL, NSC, TTR, FAP
- Neuropathy
- https://doi.org….1002/mus.27023
- https://doi.org…47/TCRM.S219979