Updates on hereditary transthyretin amyloidosis polyneuropathy.

Abstract excerpt

Hereditary transthyretin amyloidosis (ATTRv) is a fatal autosomal dominant disorder caused by pathogenic variants in the TTR gene. Various variants cause destabilization of transthyretin tetramers and extracellular deposition of misfolded amyloid fibrils in different tissues, resulting in highly variable phenotypes. The peripheral nervous system is the most frequently involved organ, followed by the heart, the...

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