Journal article
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations
- Abstract:
-
Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. Autosomal recessive acetylcholine receptor (AChR) deficiency syndromes, in which levels of this receptor at the neuromuscular junction are severely reduced, may be caused by mutations within genes encoding the AChR or the AChR-clustering protein, rapsyn. Most patients have mutations within the rapsyn coding region and are either homozygous for N88K or heteroallelic...
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- Publisher copy:
- 10.1093/brain/awl219
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Bibliographic Details
- Journal:
- Brain
- Volume:
- 129
- Issue:
- 10
- Pages:
- 2773-2783
- Publication date:
- 2006-10-01
- DOI:
- EISSN:
-
1460-2156
- ISSN:
-
0006-8950
- Source identifiers:
-
242981
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:242981
- UUID:
-
uuid:2176dcca-ea27-4693-8fce-b91f4674c10a
- Local pid:
- pubs:242981
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2006
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