Thesis
Congenital myasthenic syndromes: characterisation of a new animal model, exploring potential novel therapies and assessing the outcome of COVID-19 infection
- Abstract:
-
Background: Congenital Myasthenic Syndromes (CMS) are genetic disorders of the neuromuscular junction (NMJ) characterised by fatigable muscle weakness. Over 30 genes have been identified to cause CMS. Some lead to postsynaptic acetylcholine receptor (AChR) deficiency or altered receptor kinetic properties and in a group of patients with CMS, the mutations impair clustering of AChRs. Mutations in the delta subunit of AChR are infrequent but have been found in patie...
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Authors
Contributors
+ Maxwell, S
- Institution:
- University of Oxford
- Division:
- MSD
- Role:
- Contributor
+ Cossins, J
- Role:
- Contributor
+ Webster, R
- Institution:
- University of Oxford
- Division:
- MSD
- Role:
- Supervisor
- ORCID:
- 0000-0001-7893-1348
+ Dong, Y
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- Clinical Neurosciences
- Role:
- Supervisor
- ORCID:
- 0000-0001-8600-6988
+ Peirson, S
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- Clinical Neurosciences
- Role:
- Examiner
- ORCID:
- 0000-0003-3653-834X
- DOI:
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- University of Oxford
- Language:
-
English
- Keywords:
- Subjects:
- Deposit date:
-
2025-01-08
Terms of use
- Copyright holder:
- Alabaf, S
- Copyright date:
- 2024
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