Thursday, January 27, 2011

Links to Information about Atypical (SCN4A-Related) Myotonia Congenita

From the NIH National Center for Biotechnology Information site, about halfway down the page, under "Mapping":

In a family with acetazolamide-responsive atypical myotonia congenita, Ptacek et al. (1992) found linkage to SCN4A; maximum lod score = 3.56 to 4.19 at theta = 0.0, depending on assumed penetrance varying from 0.7 to 1.0.

The abstract for the Ptacek, et al., study, "Linkage of Atypical Myotonia Congenita to a Sodium Channel Locus," is here.

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