- Abstract:
-
The objective of this study was to analyse the mutations of the acetylcholine receptor (AChR) delta subunit gene (CHRND) in a patient with sporadic congenital myasthenic syndrome (CMS). Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS. Mutations of AChR subunit genes lead to end-plate AChR deficiency or to altered kinetic properties of the receptor. Mutations in the alpha, beta and delta subunits of the AChR are less frequent than mutations of...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1093/brain/awl188
-
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- Journal:
- Brain : a journal of neurology
- Volume:
- 129
- Issue:
- Pt 10
- Pages:
- 2784-2793
- Publication date:
- 2006-10-05
- DOI:
- EISSN:
-
1460-2156
- ISSN:
-
0006-8950
- URN:
-
uuid:236e7331-ff3c-45c2-8e99-578f75fd1f77
- Source identifiers:
-
242980
- Local pid:
- pubs:242980
- Language:
- English
- Keywords:
- Copyright date:
- 2006
Journal article
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
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