title: Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Washington University in St. Louis, St. Louis, Missouri.
authors.forename: Merveen
authors.initials: M
authors.lastname: Appu
authors.forename: Soe
authors.initials: S
authors.lastname: Mar
mesh_terms: D000293:Adolescent; D002490:Central Nervous System / Q000503:physiopathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004576:Electromyography; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein