Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile

Source
National Library of Medicine

Hereditary transthyretin amyloidosis is an autosomal dominant disease caused by mutations in the TTR gene, which encodes the protein transthyretin. It is characterized by the deposit of mutated transthyretin in multiple organs and systems, mainly the heart and peripheral nervous system, causing different forms of polyneuropathy.