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Charcot-Marie-Toth

Millennial Dragon grushnik at technologist.com
Tue Apr 27 12:52:58 EST 1999


On Mon, 26 Apr 1999 13:45:10 -0500, "Araceli González Vázquez"
<uc1141 at estud.unican.es> wrote:
>Hello,
>    I would be pleased if anyone could send me some clues or brief
>information about Charcot-Marie-Toth disfunction.

Charcot-Marie-Tooth Disease:
It is a mutation in the coding of the protein (connexin-32) involved
in the formation of gap junctions between muscle cells. This mutation
involves the deletion of a base, causing reduced permeability to
cations. This gene is found on the X-chromosome.
No curative treatment available until we develop some method of gene
therapy.

Bruzzone et al (1994) Neuron 13, pg 1253-1260
Oh et al (1997) Neuron 18, pg 927-938
Patel, Lupski (1994) Trends in Genetics 10, pg 15-22



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