Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

X-linked Charcot-Marie-Tooth disease and connexin32.

Cell biology international - 1 Nov 1998

Ionasescu V V

Abstract excerpt

We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutatio...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to Codon, Nonsense
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gap Junction beta-1 Protein

Share to Genetic Diseases, X-Linked

Share to Neural Conduction

Share to Peripheral Nerves

Share to X Chromosome

Source

Identifiers

PMID: 10873293
DOI: 10.1006/cbir.1998.0387

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10873293-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked Charcot-Marie-Tooth disease and connexin32.PMID 10873293Read ↗

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.Semantic proximity Read ↗

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence.Semantic proximity Read ↗

A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.Semantic proximity Read ↗

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.Semantic proximity Read ↗

Molecular genetics of X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.Semantic proximity Read ↗

Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.Semantic proximity Read ↗

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.Semantic proximity Read ↗

[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].Semantic proximity Read ↗

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.