Article
Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.
Revista de neurologia - 16 Sept 2020
Eirís-Puñal J, Fuentes-Pita P, Gómez-Lado C, Pérez-Gay L, López-Vázquez A, Quintas-Rey R, Barros-Angueira F, Pardo J
Abstract excerpt
INTRODUCTION: Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or...
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