A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.

Myrto MoutafiDimitrios C ZiogasSpyros MichopoulosTina BagratuniVassiliki VasileiouLaura VergaGiampaolo MerliniGiovanni PalladiniCharis MatsoukaMeletios A DimopoulosEfstathios Kastritis

Published in: BMC medical genetics (2019)

This case-report enlarges the clinical picture of ApoAI-driven disease and its complex genetic background and in parallel suggests for a more systematic approach in any case with strong suspicion of hereditary amyloidosis.

Keyphrases

case report
genome wide
multiple myeloma
copy number
gene expression
dna methylation