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| May 30, 2008 (Friday) |
| 2 p.m. |
| Synaptic function and dysfunction
in the peripheral nervous system |
| Overview |
| Insights into function from dysfunction: congenital myasthenia |
| Brehm |
| Congenital myasthenia (CMS) arises from mutations in several molecules involved
in the organization and function of the neuromuscular junction. Although CMS is
considered as distinct from "autoimmune" myasthenia in adults, this session will
explore the insights that these mutations provide for the function and
organization of the NMJ. |
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- Ono et al. (2002). The zebrafish motility mutant twitch once reveals new roles
for rapsyn in synaptic function. J Neurosci 22, 6491-6498.
- Ohno et al. (2002). Rapsyn mutations in humans cause endplate acetylcholine-receptor
deficiency and myasthenic syndrome. Am J Hum Genet 70, 875-885.
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