Proximal Charcot-Marie-Tooth syndrome with duplication on chromosome 17p11.2.
Auer-Grumbach
M
M
Department of Neurology, Karl-Franzens-University, Graz, Austria. michaela.auergrumbach@kfunigraz.ac.at
Wagner
K
K
Payer
F
F
Hartung
H P
HP
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008475:Median Nerve / Q000503:physiopathology; D009431:Neural Conduction