title: Congenital myasthenic syndromes.
abstract: 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.
authors.affiliation: Neurosciences Group, John Radcliffe Hospital, Headington, UK.
authors.forename: D
authors.initials: D
authors.lastname: Beeson
authors.forename: J
authors.initials: J
authors.lastname: Palace
authors.forename: A
authors.initials: A
authors.lastname: Vincent
mesh_terms: D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006801:Humans; D009157:Myasthenia Gravis / Q000175:diagnosis / Q000235:genetics*; D011379:Prognosis; D011950:Receptors, Cholinergic / Q000235:genetics; D013577:Syndrome
chemical_list: D011950:Receptors, Cholinergic