top of page

The underlying genetic cause of CMTX3 is a genomic rearrangement between chromosome 8q24.3 and chromosome Xq27.1. Because this involves the X chromosome, this is an X-Linked CMT.

CMTX3 symptom onset usually occurs within the first 5 years, but can be as late as 10 years old. CMTers who have CMTX3 usually experience severe foot deformities and lower limb weakness with sensory loss early in life, followed by the same in the upper limbs within 10 years of symptom onset. CMTX3 demonstrates both demyelinating and axonal neuropathy properties. CMTX3 tends to have an earlier onset than CMTX1, and typically causes more severe hand weakness and an overall faster progression than CMTX1.

A trait that sets all X-Linked CMT apart from the other types of CMT is that there can be no male-to-male transmission. Also, males who have X-Linked CMT tend to be more severely affected than females who have X-Linked CMT.

CMTX3

CMTX3

Intermediate

X-Linked Recessive

Associated Gene

Genomic Rearrangement

Chromosome

Xp26

Zygosity

This Mutation is A Genomic Rearrangement Between Two Chromosomes

Rev. Date

1/10/21

Sources

CMTA

LATEST BLOG POSTS

Error 404: Gene Not Found

SORD-Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype

We All Know the Drill

Experts in CMT_Full Color_Website Logo

Detroit, Michigan, USA

All information published on this website is provided for informational and reference purposes only and should not be construed as medical advice or as a medical diagnosis. This website is not intended to replace or to substitute the opinion and advice of your physician. Always consult with your physician.

©2020 - 2025 Experts in CMT

bottom of page