Table 2.

Single-Gene Causes of CMT Hereditary Neuropathy

Disease Name 1PathologyMode of InheritanceProportion of all CMT 2
CMT1Abnormal myelinAD40%-50%
CMT2AxonopathyAD10%-15%
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.

1.

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].

2.

From: Charcot-Marie-Tooth Hereditary Neuropathy Overview

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