Literature DB >> 10586279

A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female.

G S Lin1, J D Glass, S Shumas, S S Scherer, K H Fischbeck.   

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Year:  1999        PMID： 10586279

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  3 in total

Review 1.  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

2.  X inactivation in females with X-linked Charcot-Marie-Tooth disease.

Authors:  Sinéad M Murphy; Richard Ovens; James Polke; Carly E Siskind; Matilde Laurà; Karen Bull; Gita Ramdharry; Henry Houlden; Raymond P J Murphy; Michael E Shy; Mary M Reilly
Journal:  Neuromuscul Disord       Date:  2012-04-06       Impact factor: 4.296

3.  Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Authors:  Geir J Braathen; Jette C Sand; Geir Bukholm; Michael B Russell
Journal:  BMC Neurol       Date:  2007-07-09       Impact factor: 2.474
  3 in total

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