Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
Kabzińska
Dagmara
D
Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Korwin-Piotrowska
Teresa
T
Drechsler
Hanna
H
Drac
Hanna
H
Hausmanowa-Petrusewicz
Irena
I
Kochański
Andrzej
A
D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D006311:Hearing Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011392:Proline / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
D013912:Threonine; D011392:Proline