HNPP due to a novel missense mutation of the PMP22 gene.
Nodera
Hiroyuki
H
Department of Clinical Neuroscience, University of Tokushima, Japan. hnodera@clin.med. tokushima-u.ac.jp
Nishimura
Masataka
M
Logigian
Eric L
EL
Herrmann
David N
DN
Kaji
Ryuji
R
D000293:Adolescent; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D004576:Electromyography; D005260:Female; D020022:Genetic Predisposition to Disease; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D009185:Myelin Proteins / Q000235:genetics*; D009408:Nerve Compression Syndromes / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*
D009185:Myelin Proteins; C073687:PMP22 protein, human