1. Volume 48, Issue 1, Pages 59-62 (January 2013)
Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene 
Takahiro Yonekawa, MD, Hirofumi Komaki, MD, PhD, Yuko Saito, MD, PhD, Hiroshi Takashima, MD, PhD, Masayuki Sasaki, MD, PhD 
Pediatric Neurology 
Volume 48, Issue 1, Pages (January 2013)
DOI: /j.pediatrneurol
Copyright © 2013 Elsevier Inc. Terms and Conditions

2. Figure 1
(a) Epoxy-embedded and toluidine blue-stained semithin section of the sural nerve reveals the endoneurium, including nonmyelinated (arrows), hypomyelinated, and hypermyelinated (double arrows) fibers. Bar, 20 μm. (b) Teased fiber analysis demonstrates thin, myelinated segments and tomacula-like structures. A lack of myelination is evident in the nerves. (c) Electron microscopy reveals an absence of myelin and onion-bulb formations consisting of multilayered empty basal lamina. Bar, 2 μm. (d) Electron microscopy indicates abnormally compacted myelin. Bar, 2 μm.
Pediatric Neurology  , 59-62DOI: ( /j.pediatrneurol )
Copyright © 2013 Elsevier Inc. Terms and Conditions