- 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...
Expand abstract - Publication status:
- Published
- 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
- Language:
- English
- Keywords:
- Copyright date:
- 2001
Journal article
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
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