JUMMEC, 1998;3:54-55.

Abstract

Familial amyloid polyneuropathy is most commonly associated with variant plasma transthyretin (TTR) although it has been described in association with variant apolipoprotein A1 and gelsolin. More than 40 TTR variants, all consisting of single amino acid substitutions diskibuted widely along the length of the 127 residue TTR subunit have now been described. We report here a novel TTR variant, Glu18, in a Colombian woman with TTR amyloidosis.