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

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Journal of human genetics - 1 Jan 2008

Mandich Paola, Grandis Marina, Geroldi Alessandro, Acquaviva Massimo, Varese Alessandra, Gulli Rossella, Ciotti Paola, Bellone Emilia

Abstract excerpt

X-linked Charcot-Marie-Tooth disease (CMT1X) is a peripheral neuropathy transmitted in a dominant manner and caused by mutations in the Connexin 32 (Cx32) gene (GJB1, gap junction beta 1). Here we report the mutation analysis of the GJB1 gene in 76 subjects with possible CMT1 and absence of 17p11.2 duplication, and in 38 CMT2 patients without mutations in CMT2-associated-genes, selected from a cohort of 684...

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 Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Gap Junction beta-1 Protein

Share to Genetic Diseases, X-Linked

Share to Point Mutation

Share to Sequence Deletion

Source

Identifiers

PMID: 18379723
DOI: 10.1007/s10038-008-0280-4

Genes

GJB1

Variants

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

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.PMID 18379723Read ↗

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 ↗

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.Semantic proximity Read ↗

X‐linked Charcot‐Marie‐Tooth diseaseSemantic 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 ↗

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

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

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.Semantic proximity Read ↗

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.Semantic proximity Read ↗

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.Semantic proximity Read ↗

Screening for mutations in the peripheral myelin genesPMP22,MPZ andCx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patientsSemantic proximity Read ↗

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

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