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Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our understanding of neuromuscular transmission.


Journal article


Curr Opin Neurol

Publication Date





402 - 407


DNA Mutational Analysis, Genes, Recessive, Humans, Myasthenia Gravis, Prognosis, Receptors, Cholinergic, Syndrome