Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Marta LipowskaHanna DracDorota RowczenioJanet GilbertsonPhilip N HawkinsAnetta Lasek-BalJanusz SzewczukJacek GrzybowskiMonika GaworMałgorzata Stępień-WojnoMaria FranaszczykJoanna Brydak-GodowskaRenata ŚmierciakAgnieszka Ptasińska-PerkowskaJan ChandogaRobert PetrovicAnna Kostera-Pruszczyk

Published in: Neurologia i neurochirurgia polska (2020)

Polish ATTR-FAP cases presented with heterogeneity typical for non-endemic areas. Phe33Leu TTR mutation was the most common, found in four unrelated families.

Keyphrases

single cell
genome wide
early onset
copy number
wild type
gene expression