Literature DB >> 2901924

A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.

P Goonewardena1, J Welihinda, M Anvret, J Gyftodimou, A Haegermark, L Iselius, J Lindsten, U Pettersson.   

Abstract

A large family with Charcot-Marie-Tooth disease, showing a probable X-linked incomplete dominant inheritance, was studied by linkage analysis. Results, obtained by the use of X chromosome specific DNA probes of known regional location, suggest that the disease locus is linked to the DXYS1 locus (z = 2.59 at theta = 0.00) and to the DXS14 locus and, places the disease locus between the DXYS1 locus and the DXS14 locus, near the centromere of the X chromosome. Together with the published data, a distance of 13 cM (z = 6.95) was assessed between the disease locus and the DXYS1 locus.

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Year:  1988        PMID： 2901924     DOI： 10.1111/j.1399-0004.1988.tb03477.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.

Authors:  M L Mostacciuolo; E Müller; P Fardin; G F Micaglio; B Bardoni; S Guioli; G Camerino; G A Danieli
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

Review 2.  Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Authors:  Kleopas A Kleopa; Steven S Scherer
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

3.  Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.

Authors:  P R Fain; D F Barker; P F Chance
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

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

Authors:  J Bergoffen; J Trofatter; M A Pericak-Vance; J L Haines; P F Chance; K H Fischbeck
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

5.  X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Authors:  S Cochrane; J Bergoffen; N D Fairweather; E Müller; M L Mostacciuolo; A P Monaco; K H Fischbeck; N E Haites
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318
  5 in total

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