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Thesis

Undefined myasthenias: clinical and molecular characterisation and optimised therapy

Abstract:

Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders caused by mutations in genes encoding for proteins that are essential for neuromuscular transmission. All CMS share the clinical feature of fatigable muscle weakness. The differential diagnosis of CMS is wide, with a range of diseases going from autoimmune myasthenia gravis to muscle disorders. In this thesis, it was shown that measuring antibodies to clustered acetylcholine receptors (AChRs) by cell-based assay ...

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Department:
University of Oxford

Contributors

Department:
University of Oxford
Role:
Examiner
Department:
Newcastle University
Role:
Examiner
Department:
University of Oxford
Role:
Supervisor
Department:
University of Oxford
Role:
Supervisor
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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