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

J. Bergoffen, J. Trofatter, M. A. Pericak-Vance, J. L. Haines, P. F. Chance, K. H. Fischbeck

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92 Scopus citations


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 (θ = 0).

Original languageEnglish (US)
Pages (from-to)312-318
Number of pages7
JournalAmerican journal of human genetics
Issue number2
StatePublished - 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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