Limitation of movement during fetal development may lead to @entity1159 in the neonate, termed @entity8482 . @entity4094 are among the many different causes of reduced fetal movement. Many @entity8491 ( @entity8491 ) are due to mutations of the adult-specific epsilon subunit of the @entity934 receptor (AChR), and, thus, functional deficits do not arise until late in gestation. However, an earlier effect on the fetus might be predicted with some defects of other AChR subunits. We studied a @entity1 who presented at birth with @entity1159 and was subsequently found to have a CMS. Mutational screening revealed heteroallelic mutation within the AChR delta subunit gene, delta @entity70026 and delta @entity70027 . Expression studies demonstrate that delta @entity70026 is a null mutation. By contrast, both fetal and adult AChR containing delta @entity70027 have shorter than normal channel activations that predict fast @entity1547 currents. Thus, delta @entity70027 causes dysfunction of fetal as well as the adult AChR and would explain the presence of @entity1159 on the basis of reduced fetal movement. This is the first report of the association of AChR gene mutations with @entity8482 . It is probable that mutations that severely disrupt function of fetal AChR will underlie additional cases.

@entity934 receptor delta subunit mutations underlie a fast-channel XXXX and @entity8482 .

@entity1 :: ('9606', 'Species') :: ['child'] @entity4094 :: ('MESH:D009468', 'Disease') :: ['Neuromuscular disorders'] @entity8482 :: ('MESH:D001176', 'Disease') :: ['arthrogryposis multiplex congenita'] @entity70026 :: ('|INS|756|2', 'DNAMutation') :: ['756ins2'] @entity1547 :: ('MESH:D003731', 'Disease') :: ['decay of endplate'] @entity8491 :: ('MESH:D020294', 'Disease') :: ['CMSs', 'congenital myasthenic syndromes'] @entity1159 :: ('MESH:D003286', 'Disease') :: ['joint contractures', 'multiple joint contractures'] @entity70027 :: ('p|SUB|E|59|K', 'ProteinMutation') :: ['E59K'] @entity934 :: ('MESH:D000109', 'Chemical') :: ['acetylcholine']
@entity8491 :: (MESH:D020294,Disease) :: ['myasthenic syndrome']
