Article
Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.
Neurology - 1 Nov 1992
Izumoto S, Younger D, Hays A P, Martone R L, Smith R T, Herbert J
Abstract excerpt
We report familial amyloidotic polyneuropathy in a pedigree of German ancestry residing in New Jersey. Eight affected subjects presented in the third to seventh decade with carpal tunnel syndrome (CTS) and one subject presented with vitreous opacification. Transmission was autosomal dominant and survival was prolonged. Affected subjects were heterozygous for a novel mutation in serum transthyretin (TTR),...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
