A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female.
Lin
G S
GS
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia 19104, USA.
Glass
J D
JD
Shumas
S
S
Scherer
S S
SS
Fischbeck
K H
KH
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
D017630:Connexins; D000097002:Gap Junction beta-1 Protein