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CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) [ Homo sapiens (human) ]

Gene ID: 1254, updated on 31-Aug-2024

Summary

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Official Symbol
CMTX3provided by HGNC
Official Full Name
Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)provided by HGNC
Primary source
MIM:302802
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Genomic context

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Location:
Xq26

Bibliography

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Related articles in PubMed

  1. Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Brewer M, et al. Neurogenetics, 2008 Jul. PMID 18458969, Free PMC Article
  2. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Huttner IG, et al. Neurology, 2006 Dec 12. PMID 17159110
  3. X-linked dominant hereditary motor and sensory neuropathy. Hahn AF, et al. Brain, 1990 Oct. PMID 2245309

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. identified a large, Australian X-linked Charcot-Marie-Tooth disease family that links to the CMTX3 locus
    Title: Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
  2. This study is the first to confirm the CMTX3 locus and to refine the genetic interval to a 5.7-Mb region flanked by the markers DXS1041 and DXS8106.
    Title: Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)
OMIM: 302802GeneReviews: Not available

General gene information

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Property

  • phenotype only

Gene LinkOut

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