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 epidemiology of Charcot-Marie-Tooth disease.

Acta neurologica Scandinavica. Supplementum - 1 Jan 2012

Braathen G J

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The frequency of different CMT genotypes has been estimated in clinic populations, but prevalence data from the general population is lacking. Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth disease type 2 (CMT2), and in a single family with...

Read the complete abstract on PubMed

Topics

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

Share to Point Mutation
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 Testing

Share to Molecular Epidemiology

Share to Myelin P0 Protein

Share to Norway

Source

Identifiers

PMID: 23106488
DOI: 10.1111/ane.12013

Genes

MFN2
MPZ
PMP22
EGR2

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

Genetic epidemiology of Charcot-Marie-Tooth disease.PMID 23106488Read ↗

Genetic epidemiology of Charcot-Marie-Tooth in the general population.Semantic proximity Read ↗

Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.Semantic proximity Read ↗

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.Semantic proximity Read ↗

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.Semantic proximity Read ↗

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.Semantic proximity Read ↗

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.Semantic proximity Read ↗

[Charcot-Marie-Tooth disease].Semantic proximity Read ↗

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Semantic proximity Read ↗

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Semantic proximity Read ↗

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategiesSemantic proximity Read ↗

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.Semantic proximity Read ↗

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