Literature DB >> 2567643

Linkage in a family with X-linked Charcot-Marie-Tooth disease.

N Haites1, N Fairweather, C Clark, K F Kelly, S Simpson, A W Johnston.   

Abstract

The gene for the X-linked form of Charcot-Marie-Tooth disease (CMT Peroneal Muscular Atrophy, X-linked: McKusick No. 30280) has been shown in a single family to be linked to DXYS1 with a lod score of 4.55 at a recombination fraction of 0.03 and to PGK1 with a lod score of 3.34 at zero recombination. This is in agreement with previous work based on several families. Pooled data from this family and 7 previously reported families give a maximum lod score of 12.04 at theta max of 0.05 for linkage between CMTX and DXYS1 loci.

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Year:  1989        PMID： 2567643     DOI： 10.1111/j.1399-0004.1989.tb02964.x

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


  7 in total

1.  Isolation of DNTR polymorphisms from yeast artificial chromosomes encompassing X chromosomal loci PGK1 and DXS56.

Authors:  M B Graeber; A P Monaco; J Chelly; U Müller
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  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 3.  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

4.  Julia Bell and the Treasury of Human Inheritance.

Authors:  Peter S Harper
Journal:  Hum Genet       Date:  2005-04       Impact factor: 4.132

5.  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

6.  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

7.  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
  7 in total

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