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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Funding
Bibliographic Details
- Publication date:
- 2014
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- Oxford University, UK
Item Description
- Language:
- English
- Keywords:
- Subjects:
- UUID:
-
uuid:e817f50a-0318-4944-bf67-773af523c4c3
- Local pid:
- ora:8750
- Deposit date:
- 2014-07-10
Terms of use
- Copyright holder:
- Zoltowska, K
- Copyright date:
- 2014
- Notes:
- This thesis is not currently available via ORA.
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