Article
Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
American journal of medical genetics - 14 Jun 1996
Ionasescu V, Ionasescu R, Searby C
Abstract excerpt
We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight misse...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.