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

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Neurogenetics - 1 Jul 2008

Brewer Megan, Changi Febriani, Antonellis Anthony, Fischbeck Kurt, Polly Patsie, Nicholson Garth, Kennerson Marina

Abstract excerpt

X-linked Charcot-Marie-Tooth (CMTX) disease is a common inherited degenerative disorder of the peripheral nerve. Previously, our laboratory identified a large New Zealand/United Kingdom (NZ/UK) family mapping to the CMTX3 locus (Xq26.3-27.1). We have now identified a second large, Australian X-linked CMT family that links to the CMTX3 locus. This new family has the same phenotype as our previously described CMTX3...

Read the complete abstract on PubMed

Topics

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

Share to Australia
Share to Charcot-Marie-Tooth Disease

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

Share to Founder Effect

Share to Genes, X-Linked

Share to Genetic Diseases, X-Linked

Share to Genetic Linkage

Share to Haplotypes

Share to Lod Score

Source

Open in PubMed Open full text

Identifiers

PMID: 18458969
DOI: 10.1007/s10048-008-0126-4
PMCID: PMC6852654

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

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.PMID 18458969Read ↗

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Semantic proximity Read ↗

Identity-by-descent analysis of CMTX3 links three families through a common founder.Semantic proximity Read ↗

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal ExpressionSemantic proximity Read ↗

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3Semantic proximity Read ↗

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis.Semantic proximity Read ↗

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.Semantic proximity Read ↗

Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.Semantic proximity Read ↗

X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers.Semantic proximity Read ↗

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.Semantic proximity Read ↗

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.Semantic proximity Read ↗

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

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

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