Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene.
Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan. snishym@med.tohoku.ac.jp
Shuhei
S
Nishiyama
Naoto
N
Sugeno
Maki
M
Tateyama
Masashi
M
Aoki
D000200:Action Potentials / Q000502:physiology; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004220:Disulfides; D005110:Extracellular Space; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*; D017887:Ossification of Posterior Longitudinal Ligament / Q000150:complications; D010641:Phenotype; D011984:Sensory Receptor Cells / Q000502:physiology
D004220:Disulfides; C560547:MPZ protein, human; D018993:Myelin P0 Protein