A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.
We describe a patient with both neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. Although one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to interact.
Lancaster
Eric
E
Department of Neurology, University of Pennsylvania Medical Center, 3400 Spruce Street, 3W Gates Neurology, Philadelphia, Pennsylvania 19104, USA. eric.lancaster@uphs.upenn.edu
Elman
Lauren B
LB
Scherer
Steven S
SS
D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics