Active Calcium Accumulation Underlies Severe Weakness in a Panel of Mice with Slow-Channel Syndrome

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 conseque...

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Veröffentlicht in:	The Journal of neuroscience 2002-08, Vol.22 (15), p.6447-6457
Hauptverfasser:	Gomez, Christopher M, Maselli, Ricardo A, Groshong, Jason, Zayas, Roberto, Wollmann, Robert L, Cens, Thierry, Charnet, Pierre
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Calcium - metabolism Disease Models, Animal Electromyography Gene Targeting Mice Mice, Transgenic Motor Endplate - metabolism Motor Endplate - pathology Muscle Contraction - genetics Muscle Weakness - etiology Muscle Weakness - metabolism Mutation Myasthenic Syndromes, Congenital - etiology Myasthenic Syndromes, Congenital - physiopathology Neuromuscular Junction - metabolism Neuromuscular Junction - pathology Oocytes - metabolism Patch-Clamp Techniques Permeability Protein Subunits Receptors, Cholinergic - genetics Receptors, Cholinergic - metabolism RNA, Messenger - biosynthesis Transfection Transgenes Xenopus
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