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...Expand abstract
- Publication date:
- Type of award:
- Level of award:
- Awarding institution:
- Oxford University, UK
- Local pid:
- Copyright holder:
- Katarzyna Marta Zoltowska
- Copyright date:
- This thesis is not currently available via ORA.
Novel pathogenic mechanisms of myasthenic disorders and potential therapeutic approaches
Views and Downloads
If you are the owner of this record, you can report an update to it here: Report update to this record