Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
Blanquet-Grossard
F
F
Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Université de Paris VI, France.
Pham-Dinh
D
D
Dautigny
A
A
Latour
P
P
Bonnebouche
C
C
Diraison
P
P
Chapon
F
F
Chazot
G
G
Vandenberghe
A
A
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D006031:Glycosylation; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation
D009185:Myelin Proteins; C073687:PMP22 protein, human