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

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

Neurology - 14 Feb 2006

Kleopa K A, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou D-M, Hadjisavvas A, Kyriakides T, Christodoulou K

Abstract excerpt

OBJECTIVE: To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X). METHODS: The authors evaluated several members of two families with CMT1X clinically, electrophysiologically, pathologically, and by genetic testing. The Cx32 mutations were expressed in vitro and studied by immunocytochemistry. RESULTS: In both families,...

Read the complete abstract on PubMed

Topics

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

Share to Central Nervous System Diseases
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Demyelinating Diseases

Share to Electromyography

Share to Gap Junction beta-1 Protein

Share to Neural Conduction

Share to Polyneuropathies

Share to Sural Nerve

Source

Identifiers

PMID: 16476939
DOI: 10.1212/01.wnl.0000196479.93722.59

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

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.PMID 16476939Read ↗

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).Semantic proximity Read ↗

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

Altered trafficking of mutant connexin32.Semantic proximity Read ↗

X‐linked Charcot‐Marie‐Tooth diseaseSemantic proximity Read ↗

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.Semantic proximity Read ↗

CMT1X phenotypes represent loss of GJB1 gene function.Semantic proximity Read ↗

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.Semantic proximity Read ↗

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

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Semantic proximity Read ↗

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.Semantic proximity Read ↗

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