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

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Molecular genetics & genomic medicine - 1 Mar 2020

Liu Yingdi, Xue Jinjie, Li Zhuo, Linpeng Siyuan, Tan Hu, Teng Yanling, Liang Desheng, Wu Lingqian

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a group of hereditary neuropathies with high phenotypic and genetic heterogeneity. In this study, we report a large family with X-linked CMT (CMTX) caused by a novel GJB1 mutation. METHODS: A family with the clinical diagnosis of CMTX was investigated. For mutation analysis, the coding region of GJB1 was sequenced using DNA from 15 family members. The identified...

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 Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gap Junction beta-1 Protein

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 31943912
DOI: 10.1002/mgg3.1127
PMCID: PMC7057093

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.PMID 31943912Read ↗

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.Semantic proximity Read ↗

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

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.Semantic proximity Read ↗

A novel splicing mutation in 5'UTR of GJB1 causes 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 ↗

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

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.Semantic proximity Read ↗

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.Semantic proximity Read ↗

Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.Semantic proximity Read ↗

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Semantic proximity Read ↗

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