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A Nonsense Mutation in the α1 Subunit of the Inhibitory Glycine Receptor Associated with Bovine Myoclonus

✍ Scribed by Kerrie D. Pierce; Cheryl A. Handford; Renée Morris; Behnaz Vafa; Julie A. Dennis; Peter J. Healy; Peter R. Schofield

Book ID: 115637717
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 715 KB
Volume: 17
Category: Article
ISSN: 1044-7431
DOI: 10.1006/mcne.2000.0934

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## Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α‐1 subunit of the inhibitory glycine r