Article
Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.
Human mutation - 1 Oct 2006
Becker Kristina, Hohoff Carsten, Schmitt Bernhard, Christen Hans-Jürgen, Neubauer Bernd A, Sandrieser Torsten, Becker Cord-Michael
Abstract excerpt
Hyperekplexia (startle disease) is a hereditary motor disease caused by mutations within the GLRA1 gene (Chr. 5q33.1), which encodes the alpha1 subunit of the inhibitory glycine receptor (GlyR). While most patients are diagnosed with dominant hyperekplexia associated with point mutations within or adjacent to the channel pore, recessive hyperekplexia is less frequent. Here, we report five new pedigrees of...
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