Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
Nature Publishing Group
Nature Archives 1869 - 2009
[Auszug] Hereditary hyperekplexia, or familial startle disease (STHE), is an autosomal dominant neurologic disorder characterized by marked muscle rigidity of central nervous system origin and an exaggerated startle response to unexpected acoustic or tactile stimuli. Linkage analyses in several large ...
Type of Medium: