Article
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
Muscle & nerve - 1 May 2018
Chen Dong-Hui, Ma Maxwell, Scavina Mena, Blue Elizabeth, Wolff John, Karna Prasanthi, Dorschner Michael O, Raskind Wendy H, Bird Thomas D
Abstract excerpt
INTRODUCTION: Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth disease (CMTX). METHODS: Clinical, electrophysiological, and molecular genetic analyses were performed on an...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.