Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1993 Dec 24;262(5142):2039-42.
doi: 10.1126/science.8266101.

Connexin mutations in X-linked Charcot-Marie-Tooth disease

J Bergoffen  1 , S S Scherer, S Wang, M O Scott, L J Bone, D L Paul, K Chen, M W Lensch, P F Chance, K H Fischbeck
Affiliations

Connexin mutations in X-linked Charcot-Marie-Tooth disease

J Bergoffen et al. Science. .

Abstract

X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The gene for the gap junction protein connexin32 is located in the same chromosomal segment, which led to its consideration as a candidate gene for CMTX. With the use of Northern (RNA) blot and immunohistochemistry technique, it was found that connexin32 is normally expressed in myelinated peripheral nerve. Direct sequencing of the connexin32 gene showed seven different mutations in affected persons from eight CMTX families. These findings, a demonstration of inherited defects in a gap junction protein, suggest that connexin32 plays an important role in peripheral nerve.

PubMed Disclaimer

Publication types