Which nerve biopsy findings are characteristic of Charcot-Marie-Tooth (CMT) disease type 1B?

Updated: Feb 19, 2019
  • Author: Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Answer

Several groups (including one of the authors) have reported hypermyelination typical of tomaculae previously considered pathognomonic of HNPP (see below) with MPZ mutations in certain gene domains, while mutations in other domains result in hypomyelination indistinguishable from findings in CMT1A.


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