title: A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female.
authors.affiliation: Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA.
authors.forename: G S
authors.initials: GS
authors.lastname: Lin
authors.forename: J D
authors.initials: JD
authors.lastname: Glass
authors.forename: S
authors.initials: S
authors.lastname: Shumas
authors.forename: S S
authors.initials: SS
authors.lastname: Scherer
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002874:Chromosome Mapping; D017630:Connexins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D017354:Point Mutation; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein