Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene

Clin Neurol Neurosurg. 2013 Feb;115(2):208-9. doi: 10.1016/j.clineuro.2012.04.016. Epub 2012 May 24.

Authors

Shuhei Nishiyama¹, Naoto Sugeno, Maki Tateyama, Masashi Aoki

Affiliation

¹ Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan. snishym@med.tohoku.ac.jp

PMID: 22633464
DOI: 10.1016/j.clineuro.2012.04.016

No abstract available

Publication types

Case Reports

MeSH terms

Action Potentials / physiology
Aged
Charcot-Marie-Tooth Disease / genetics*
Disulfides
Extracellular Space
Gait Disorders, Neurologic / etiology
Humans
Magnetic Resonance Imaging
Male
Mutation*
Myelin P0 Protein / chemistry
Myelin P0 Protein / genetics*
Ossification of Posterior Longitudinal Ligament / complications
Phenotype
Sensory Receptor Cells / physiology

Substances

Disulfides
MPZ protein, human
Myelin P0 Protein