top of page
The Cryptid Sloth
Where CMT and Life Meet
The Cryptid Sloth
Where CMT and Life Meet
The Cryptid Sloth
Where CMT and Life Meet
CMT4Me Podcast: CMT Raw and Unfiltered
Listen Here
CMT4Me Podcast: CMT Raw and Unfiltered
Listen Here
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
bottom of page