Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.
Seeman
P
P
Department of Child Neurology, Second School of Medicine, Charles University Prague, Praha 5, Czech Republic. pavel.seeman@lfmotol.cuni.cz
Mazanec
R
R
Marikova
T
T
Rautenstrauss
B
B
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005091:Exons; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
D009185:Myelin Proteins; C073687:PMP22 protein, human