top of page
CMT2T

CMT2T

Axonal

Autosomal Dominant or Recessive

Associated Gene

MME

Chromosome

3q25.2

Zygosity

Can Be Heterozygous, or Can Be Homozygous, or Can Be Compound Heterozygous

CMT2T is caused by autosomal dominant and autosomal recessive mutations in the MME gene.

CMT2T is exceedingly rare. CMT2T was first reported by Higuchi et al., (2016). The report was of 10 unrelated Japanese CMTers with adult-onset peripheral neuropathy that was consistent with a Type 2 CMT. Most of these 10 CMTers had one or more similarly affected family members, and 6 of the families were consanguineous (parents were close blood relatives). Symptom onset was between 36 and 56, and all patients had slowly progressive weakness and atrophy of the distal (farthest points from the center of the body) lower limb muscles, resulting in gait disturbances, although none were wheelchair-bound. All also had distal (points farthest away from the center of the body) sensory impairment and hyporeflexia (under-reactive reflexes).

Rev. Date

1/10/21

Sources

CMTA
INC

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