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Journal article

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Abstract:

Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR), and, thus, functional deficits do not arise until late in gestation. However, an earlier effect on the fetus might be pred...

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Publication status:
Published

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Publisher copy:
10.1172/jci200112935

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Journal:
The Journal of clinical investigation
Volume:
108
Issue:
1
Pages:
125-130
Publication date:
2001-07-05
DOI:
EISSN:
1558-8238
ISSN:
0021-9738
URN:
uuid:fc7d18a7-3b21-4e2c-ab34-06f22bc9263d
Source identifiers:
242125
Local pid:
pubs:242125

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