Mathematisch-Naturwissenschaftliche Fakultät: Suche
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Functional consequences of ε AChR subunit truncating mutations linked to Congenital Myasthenic Syndrome
(2005)
Congenital myasthenic syndromes (CMS) are inherited disorders due to presynaptic, synaptic, or postsynaptic defects of neuromuscular transmission. Some previously described kinships with typical signs of postsynaptic CMS ...