title: Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
authors.affiliation: Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B & IFR 14, Hôpital de la Salpêtriére, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: K
authors.initials: K
authors.lastname: Gaudon
authors.forename: F
authors.initials: F
authors.lastname: Andreux
authors.forename: E
authors.initials: E
authors.lastname: Yasaki
authors.forename: C
authors.initials: C
authors.lastname: Prioleau
authors.forename: S
authors.initials: S
authors.lastname: Bauché
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: C
authors.initials: C
authors.lastname: Ioos
authors.forename: M
authors.initials: M
authors.lastname: Mayer
authors.forename: M C
authors.initials: MC
authors.lastname: Routon
authors.forename: M
authors.initials: M
authors.lastname: Mokhtari
authors.forename: J P
authors.initials: JP
authors.lastname: Leroy
authors.forename: E
authors.initials: E
authors.lastname: Fournier
authors.forename: B
authors.initials: B
authors.lastname: Hainque
authors.forename: J
authors.initials: J
authors.lastname: Koenig
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: D
authors.initials: D
authors.lastname: Hantaï
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D018703:Founder Effect; D006801:Humans; D007223:Infant; D008239:Lysine / Q000235:genetics; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000235:genetics
chemical_list: D009124:Muscle Proteins; D011978:Receptors, Nicotinic; C051609:peripheral membrane protein 43K; D001216:Asparagine; D008239:Lysine