title: A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs.
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: Federico
authors.initials: F
authors.lastname: Ranieri
authors.forename: Federica
authors.initials: F
authors.lastname: Taioli
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Grande
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000200:Action Potentials / Q000235:genetics / Q000502:physiology; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D017630:Connexins / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D010525:Peripheral Nerves / Q000503:physiopathology; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein