Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1

Am J Hum Genet. 2001 Oct;69(4):889-94. doi: 10.1086/323742. Epub 2001 Aug 30.

Abstract

Intermediate Charcot-Marie-Tooth neuropathy (CMT) is an inherited sensory motor neuropathy characterized by motor median nerve conduction velocities of 25-45 m/s. We performed a genomewide search in an Italian family with autosomal dominant intermediate CMT and mapped the locus on chromosome 10q. Analysis of key recombinants maps the gene for autosomal dominant intermediate CMT to a 10.7-Mb interval on chromosome 10q24.1-q25.1, between simple tandem repeat markers D10S1709 and D10S1795.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10 / genetics*
  • Female
  • Genes, Dominant / genetics
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Italy
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Recombination, Genetic / genetics
  • Tandem Repeat Sequences / genetics

Substances

  • Genetic Markers

Associated data

  • OMIM/118200
  • OMIM/118210
  • OMIM/118220
  • OMIM/129010
  • OMIM/145900
  • OMIM/159440
  • OMIM/162230
  • OMIM/162250
  • OMIM/162280
  • OMIM/304040
  • OMIM/601097
  • OMIM/601382
  • OMIM/601455
  • OMIM/603557
  • OMIM/603804
  • OMIM/605143
  • OMIM/605253
  • OMIM/605262
  • OMIM/605285
  • OMIM/605338
  • OMIM/605725
  • OMIM/605995