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 second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

American journal of human genetics - 1 Jan 2001

Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernández E, Méndez M, Hennies H C, Neundörfer B, Barrantes R, Reis A, Rautenstrauss B

Abstract excerpt

Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results of a genomewide search in an inbred Costa Rican family (CR-1) affected with autosomal recessive...

Read the complete abstract on PubMed

Topics

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

Share to Axons
Share to Charcot-Marie-Tooth Disease

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

Share to Chromosomes, Human, Pair 19

Share to Consanguinity

Share to Costa Rica

Share to Genes, Recessive

Share to Lod Score

Source

Open in PubMed Open full text

Identifiers

PMID: 11112660
DOI: 10.1086/316934
PMCID: PMC1234926

Genes

PMP22

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 · 12 closest

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.PMID 11112660Read ↗

A Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 1q21.2-q21.3Semantic proximity Read ↗

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.Semantic proximity Read ↗

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.Semantic proximity Read ↗

Autosomal recessive forms of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Semantic proximity Read ↗

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.Semantic proximity Read ↗

Charcot-Marie-Tooth syndrome.Semantic proximity Read ↗

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.Semantic proximity Read ↗

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.Semantic proximity Read ↗

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Autosomal-recessive Charcot-Marie-Tooth diseases.Semantic proximity Read ↗

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.Semantic proximity Read ↗

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