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 family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2000

Verhelst H E, Lofgren A, Van Coster R N

Abstract excerpt

A family with a hereditary peripheral neuropathy is presented. Pedigree analysis suggested X-linked dominant mode of inheritance. The index patient became symptomatic at the age of 12 years. Clinical examination at 14 years revealed footdrop on the left, bilateral pes cavus, slight atrophy of thenar eminences, decreased muscle strength in both legs and brisk deep tendon reflexes. Electrophysiological studies were...

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 Genetic Linkage

Share to Point Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Polyneuropathies

Share to X Chromosome

Source

Identifiers

PMID: 11030070
DOI: 10.1053/ejpn.2000.0311

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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 family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.PMID 11030070Read ↗

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

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

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

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

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

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

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.Semantic proximity Read ↗

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.Semantic proximity Read ↗

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).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.