Neurobiology of Disease


Date: May 30, 2008 (Friday)
Time: 2 p.m.
Theme: Synaptic function and dysfunction in the peripheral nervous system
Module: Overview
Session: Insights into function from dysfunction: congenital myasthenia
Instructor: Brehm
Description: 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.
  1. Ono et al. (2002). The zebrafish motility mutant twitch once reveals new roles for rapsyn in synaptic function. J Neurosci 22, 6491-6498.
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  2. 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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