Table 2.

Single-Gene Causes of CMT Hereditary Neuropathy

Disease Name 1PathologyMode of InheritanceProportion of all CMT 2
CMT1Abnormal myelinAD40%-50%
Intermediate formCombination of myelinopathy and axonopathy in individualADRare
CMT4Either myelinopathy or axonopathyARRare
CMTXAxonopathy with secondary myelin changesXLD10%-15%

See Charcot-Marie-Tooth Disease: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.


Each of the CMT subtypes (CMT1, CMT2, CMT4, and CMTX) is further subdivided primarily on molecular genetic findings [De Jonghe et al 1997, Keller & Chance 1999, Nelis et al 1999].


From: Charcot-Marie-Tooth Hereditary Neuropathy Overview

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