Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?
Pareyson
D
D
Division of Neurology, Carlo Besta National Neurological Institute, Milan, Italy. dpareys@tin.it
Testa
D
D
Morbin
M
M
Erbetta
A
A
Ciano
C
C
Lauria
G
G
Milani
M
M
Taroni
F
F
D002420:Cauda Equina / Q000473:pathology*; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis*; D002607:Charcot-Marie-Tooth Disease / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003241:Consanguinity; D018450:Disease Progression; D018628:Gene Dosage; D020440:Gene Duplication; D006720:Homozygote; D006801:Humans; D006984:Hypertrophy; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
D002556:Cerebrospinal Fluid Proteins; D009185:Myelin Proteins; C073687:PMP22 protein, human