Two families with novel PMP22 point mutations: genotype-phenotype correlation.
Pisciotta
Chiara
C
Manganelli
Fiore
F
Iodice
Rosa
R
Bellone
Emilia
E
Geroldi
Alessandro
A
Volpi
Nila
N
Mandich
Paola
P
Santoro
Lucio
L
D000200:Action Potentials; D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D004252:DNA Mutational Analysis; D004594:Electrophysiology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D009431:Neural Conduction; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
D009185:Myelin Proteins; C073687:PMP22 protein, human