In:
Biological Chemistry, Walter de Gruyter GmbH, Vol. 393, No. 4 ( 2012-04-01), p. 283-289
Abstract:
Startle disease affects newborn children and involves an exaggerated startle response and muscle hypertonia in response to acoustic or tactile stimuli. The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene ( GLRA1 ). However, mutations have also been discovered in the genes encoding the GlyR β subunit ( GLRB ) and the presynaptic glycine transporter GlyT2 ( SLC6A5 ). GlyT2 mutations have also been detected in Belgian Blue cattle and Irish Wolfhounds, where they have significant economic and animal welfare impacts.
Type of Medium:
Online Resource
ISSN:
1437-4315
,
1431-6730
Language:
Unknown
Publisher:
Walter de Gruyter GmbH
Publication Date:
2012
detail.hit.zdb_id:
1466062-3
SSG:
12
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