Article
Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Aug 2002
Gomez Christopher M, Maselli Ricardo A, Groshong Jason, Zayas Roberto, Wollmann Robert L, Cens Thierry, Charnet Pierre
Abstract excerpt
Mutations affecting the gating and channel properties of ionotropic neurotransmitter receptors in some hereditary epilepsies, in familial hyperekplexia, and the slow-channel congenital myasthenic syndrome (SCCMS) may perturb the kinetics of synaptic currents, leading to significant clinical consequences. Although at least 12 acetylcholine receptor (AChR) mutations have been identified in the SCCMS, the altered...
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