Article
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Clinical genetics - 1 Feb 2012
Kim Y, Choi K-G, Park K D, Lee K S, Chung K W, Choi B-O
Abstract excerpt
X-linked dominant Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropathy, caused mainly by a mutation of connexin 32 (Cx32) gene. We performed a mutation analysis of Cx32 by direct sequencing of the coding sequence, then identified 23 mutations from 28 Korean CMTX families. Nine mutations were not reported previously: Gly5Ser, Ser26fs, Val37Leu, Thr86Ile, Val152fs, Phe153Cys, Asp178X, Ala197Val,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.