Linkage localization of X-linked Charcot-Marie-Tooth disease.

Journal Article (Journal Article)

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is a heterogeneous group of slowly progressive, degenerative disorders of peripheral nerve. X-linked CMT (CMTX) (McKusick 302800), a subdivision of type I, or demyelinating, CMT is an X-linked dominant condition with variable penetrance. Previous linkage analysis using RFLPs demonstrated linkage to markers on the proximal long and short arms of the X chromosome, with the more likely localization on the proximal long arm of the X chromosome. Available variable simple-sequence repeats (VSSRs) broaden the possibilities for linkage analysis. This paper presents new linkage data and recombination analysis derived from work with four VSSR markers--AR, PGKP1, DXS453, and DXYS1X--in addition to analysis using RFLP markers described elsewhere. These studies localize the CMTX gene to the proximal Xq segment between PGKP1 (Xq11.2-12) and DXS72 (Xq21.1), with a combined maximum multipoint lod score of 15.3 at DXS453 (theta = 0).

Full Text

Duke Authors

Cited Authors

  • Bergoffen, J; Trofatter, J; Pericak-Vance, MA; Haines, JL; Chance, PF; Fischbeck, KH

Published Date

  • February 1993

Published In

Volume / Issue

  • 52 / 2

Start / End Page

  • 312 - 318

PubMed ID

  • 8430694

Pubmed Central ID

  • PMC1682189

International Standard Serial Number (ISSN)

  • 0002-9297


  • eng

Conference Location

  • United States