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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Bibliographic Details
- Journal:
- Journal of clinical investigation
- Volume:
- 108
- Issue:
- 1
- Pages:
- 125-130
- Publication date:
- 2001-07-01
- DOI:
- EISSN:
-
1558-8238
- ISSN:
-
0021-9738
- Source identifiers:
-
242125
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:242125
- UUID:
-
uuid:fc7d18a7-3b21-4e2c-ab34-06f22bc9263d
- Local pid:
- pubs:242125
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2001
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