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Effects of beta-2 adrenergic receptor agonists in DOK7 congenital myasthenic syndrome

Abstract:

Congenital myasthenic syndromes (CMS) are a rare group of heterogeneous disorders, characterised by compromised neuromuscular transmission and symptoms of fatiguable muscle weakness. CMS is caused by mutations in genes that affect the structure and function of the neuromuscular junction (NMJ). In about 20% of CMS cases, patients have mutations in the gene DOK7; the protein product, DOK7, is crucial for maintaining the dense aggregation of acety...

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Division:
MSD
Department:
Clinical Neurosciences
Department:
University of Oxford
Role:
Author

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Department:
University of Oxford
Role:
Supervisor
Department:
University of Oxford
Role:
Supervisor
Muscular Dystrophy UK More from this funder
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
UUID:
uuid:9360c51b-8497-47ca-bd16-e917a3614a25
Deposit date:
2016-02-09

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