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

Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.

Neurology - 1 Feb 1996

Yoshioka R, Dyck P J, Chance P F

Abstract excerpt

Charcot-Marie-Tooth neuropathy type 2 (CMT2) is a common inherited axonal neuropathy. The locus for one form of CMT2 (CMT2A) is assigned to the short arm of chromosome 1. There is genetic heterogeneity in CMT2 because additional pedigrees do not demonstrate linkage to chromosome 1 and are designated as CMT2B. Further clinical heterogeneity is suggested by CMT2 pedigrees with diaphragm and vocal cord weakness and...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to DNA Primers
Share to Genetic Linkage

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Markers

Share to Genotype

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Recombination, Genetic

Source

Identifiers

PMID: 8614538
DOI: 10.1212/wnl.46.2.569

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2.PMID 8614538Read ↗

Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.Semantic proximity Read ↗

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.Semantic proximity Read ↗

Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D.Semantic proximity Read ↗

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.Semantic proximity Read ↗

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).Semantic proximity Read ↗

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.Semantic proximity Read ↗

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.Semantic proximity Read ↗

[Different phenotypes of Charcot-Marie-Tooth disease caused by mutations in the same gene. Are classical criteria for classification still valid?].Semantic proximity Read ↗

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