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

Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.

European neurology - 1 Jan 2000

Felice K J, Seltzer W K

Abstract excerpt

No abstract is available from the source.

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
Share to Gap Junction beta-1 Protein
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Sex Chromosome Aberrations

Share to X Chromosome

Source

Identifiers

PMID: 10894999
DOI: 10.1159/000008196

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.PMID 10894999Read ↗

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

Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.Semantic proximity Read ↗

Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.Semantic proximity Read ↗

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.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 ↗

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

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth diseaseSemantic proximity Read ↗

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

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).Semantic proximity Read ↗

A founder mutation in French-Canadian families with X-linked hereditary neuropathy.Semantic proximity Read ↗

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