title: Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
authors.forename: R  A
authors.initials: R
authors.lastname: Maselli
authors.forename: H
authors.initials: H
authors.lastname: Dris
authors.forename: J
authors.initials: J
authors.lastname: Schnier
authors.forename: J  L
authors.initials: J
authors.lastname: Cockrell
authors.forename: R  L
authors.initials: R
authors.lastname: Wollmann
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002460:Cell Line; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D049452:Green Fluorescent Proteins / Q000235:genetics / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000235:genetics* / Q000378:metabolism; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011978:Receptors, Nicotinic / Q000235:genetics / Q000378:metabolism; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D014162:Transfection
chemical_list: D009124:Muscle Proteins; D011978:Receptors, Nicotinic; D011993:Recombinant Fusion Proteins; C051609:peripheral membrane protein 43K; D049452:Green Fluorescent Proteins