1                                              SCCMS is associated with calcium overload of the neuromu

2                                 We treated 6 SCCMS patients with quinidine sulfate in an open-label t

3 he notion that the drug can be of benefit in SCCMS.

4 ng episodes of genetically engineered mutant SCCMS receptors in vitro, we tested the notion that the

5                 We have identified three new SCCMS mutations and a further familial case of the alpha

6 region, like five of six previously reported SCCMS mutations, alpha S269I and alpha V156M are in extr

7 Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of the neuromuscular synapse caused

8 slow-channel congenital myasthenic syndrome (SCCMS) is a dominantly inherited disorder of neuromuscul

9 slow-channel congenital myasthenic syndrome (SCCMS) is caused by gain of function mutations in subuni

10 slow-channel congenital myasthenic syndrome (SCCMS) may perturb the kinetics of synaptic currents, le

11 slow-channel congenital myasthenic syndrome (SCCMS), is dominantly inherited and has been shown to in

12 ies critical for disease pathogenesis in the SCCMS have not been identified.

13 of a series of AChR subunit mutations in the SCCMS supports the hypothesis that the altered kinetics

14 Our results demonstrate heterogeneity in the SCCMS, indicate new regions of the AChR involved in ACh

15 (AChR) mutations have been identified in the SCCMS, the altered channel properties critical for disea

16 ent of the synaptic degeneration seen in the SCCMS, we have studied the properties of the AChR mutati

17 a syndrome that is highly reminiscent of the SCCMS.

18 pectrum of abnormalities associated with the SCCMS and point to the subsynaptic organelles as princip

19 tation, epsilonL269F, found in a family with SCCMS, using both in vitro and in vivo expression system