Article
Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant.
European heart journal - 1 May 2012
Sattianayagam Prayman T, Hahn Angelika F, Whelan Carol J, Gibbs Simon D J, Pinney Jennifer H, Stangou Arie J, Rowczenio Dorota, Pflugfelder Peter W, Fox Zoe, Lachmann Helen J, Wechalekar Ashutosh D, Hawkins Philip N, Gillmore Julian D
Abstract excerpt
AIMS: Familial amyloid polyneuropathy (FAP) is a dominantly inherited multi-system disease associated with transthyretin (TTR) mutations. Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide. Here, we report the dominant cardiac phenotype and outcome of FAP associated with TTR Thr60Ala (T60A), the most common UK variant....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.