CMT1D

CMT1D

Demyelinating

Autosomal Dominant

Associated Gene

EGR2

Chromosome

10q21.3

Zygosity

Heterozygous

CMT1D is caused by autosomal dominant mutations in the EGR2 gene. CMT1D symptom onset is usually within the first 10 years. CMT1D tends to be severe with nerve conduction velocities <10 m/sec, and usually involves the cranial nerves and the nerves that control the respiratory muscles.

Autosomal recessive mutations in the EGR2 gene are associated with causing CMT4E.

Rev. Date

1/10/21