title: Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.
authors.forename: S
authors.initials: S
authors.lastname: Kraner
authors.forename: J-M
authors.initials: JM
authors.lastname: Burgunder
authors.forename: K M
authors.initials: KM
authors.lastname: Rösler
authors.forename: O K
authors.initials: OK
authors.lastname: Steinlein
authors.forename: J P
authors.initials: JP
authors.lastname: Sieb
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D021122:Protein Subunits; D011950:Receptors, Cholinergic / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D021122:Protein Subunits; D011950:Receptors, Cholinergic