PMID- 12020474 OWN - NLM STAT- MEDLINE DCOM- 20021001 LR - 20191106 IS - 1471-4892 (Print) IS - 1471-4892 (Linking) VI - 2 IP - 3 DP - 2002 Jun TI - Diseases of the neuromuscular junction. PG - 296-301 AB - The neuromuscular junction is a prototype synapse and it is also the site of well-characterised autoimmune and hereditary disorders. In the presynaptic terminal, voltage-gated potassium channels and voltage-gated calcium channels are subtly altered in genetic disorders and mutations in the enzyme that synthesises acetylcholine have been demonstrated in a particular form of hereditary myasthenia syndrome. Recent advances have revealed agrin, muscle-specific kinase (MuSK) and rapsyn as important signalling elements in the development and maintainance of the molecular architecture of the postsynaptic membrane. This is proving relevant to seronegative myasthenia gravis, with the discovery of anti-MuSK antibodies, and to a type of congenital myasthenic syndrome, in which acetylcholine receptor deficiency is due to mutations in rapsyn. FAU - McConville, John AU - McConville J AD - Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK. jmcconville@hammer.imm.ox.ac.uk FAU - Vincent, Angela AU - Vincent A LA - eng PT - Journal Article PT - Review PL - England TA - Curr Opin Pharmacol JT - Current opinion in pharmacology JID - 100966133 RN - 0 (Receptors, Presynaptic) SB - IM MH - Animals MH - Humans MH - Neuromuscular Diseases/*drug therapy/physiopathology MH - *Neuromuscular Junction MH - Receptors, Presynaptic/drug effects MH - Synapses/drug effects/physiology MH - Synaptic Transmission/physiology RF - 29 EDAT- 2002/05/22 10:00 MHDA- 2002/10/03 04:00 CRDT- 2002/05/22 10:00 PHST- 2002/05/22 10:00 [pubmed] PHST- 2002/10/03 04:00 [medline] PHST- 2002/05/22 10:00 [entrez] AID - S147148920200156X [pii] AID - 10.1016/s1471-4892(02)00156-x [doi] PST - ppublish SO - Curr Opin Pharmacol. 2002 Jun;2(3):296-301. doi: 10.1016/s1471-4892(02)00156-x.