Discover Community Create You

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

Mutation in connexin 32 causes Charcot-Marie-Tooth disease in a large Chinese family.

Muscle & nerve - 1 Nov 2010

Guo Fuqiang, Shi Yi, Lin Ying, Liu Xiaoqi, Liu Bin, Liu Ying, Yang Yang, Lu Fang, Ma Shi, Yang Zhenglin

Abstract excerpt

The purpose was to study the clinical features and genetics of a large Chinese family with Charcot-Marie-Tooth (CMT) disease. A genome-wide linkage scan using Applied Biosystems v. 2.5 411 short tandem repeat (STR) markers was performed in this family. Mutation screening was conducted on connexin...

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 Chromosomes, Human, X
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electromyography

Share to Family

Share to Gap Junction beta-1 Protein

Share to Neural Conduction

Share to Tandem Repeat Sequences

Source

Identifiers

PMID: 20730878
DOI: 10.1002/mus.21756

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20730878-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in connexin 32 causes Charcot-Marie-Tooth disease in a large Chinese family.PMID 20730878Read ↗

A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.Semantic proximity Read ↗

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

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

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

Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth disease and connexin32.Semantic proximity Read ↗

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.Semantic proximity Read ↗

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.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 ↗

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

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

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