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Thesis

Novel pathogenic mechanisms of myasthenic disorders and potential therapeutic approaches

Abstract:

Congenital myasthenic syndrome (CMS) and myasthenia gravis (MG) are, respectively, inherited or autoimmunological disorders caused by aberrant neuromuscular transmission, which manifests as fatiguable muscle weakness.

A novel subtype of CMS, resulting from mutations in GFPT1 and characterised by a limb girdle pattern of muscle weakness, has been described. The gene encodes L glutamine:D fructose-6-phosphate amidotransferase 1 (GFAT1) – a key rate limiting enzyme in the hexosamine bio...

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Institution:
University of Oxford
Research group:
Neurosciences
Oxford college:
Green Templeton College
Department:
Medical Sciences Division - Molecular Medicine,Weatherall Institute of
Role:
Author

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Role:
Supervisor
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Funding agency for:
Katarzyna Marta Zoltowska
Publication date:
2014
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
Oxford University, UK
URN:
uuid:e817f50a-0318-4944-bf67-773af523c4c3
Local pid:
ora:8750

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