top of page
CMT2B1

CMT2B1

Axonal

Autosomal Recessive

Associated Gene

LMNA

Chromosome

1q22

Zygosity

Homozygous

CMT2B1 is caused by autosomal recessive mutations in the LMNA gene. CMT2B1 is also known as Autosomal Recessive CMT2A, or AR-CMT2A for short.

CMT2B1 symptoms usually start to occur between the CMTers early teens and mid-20s. Once symptoms start to show, progression can happen exceedingly rapid. Within sometimes a matter of months of the first signs of CMT, the CMTer’s arms and hands can become very weak. Pelvic girdle weakness can become significant by about 4 years after the first symptoms start. The pelvic girdle is the structure that connects the upper body to the legs and lower body. Some, however, do not experience the typical rapid progression or proximal (closest to the center of the body) limb weakness.

CMT2B1 is primarily seen only in the countries of northern Africa. The countries of northern Africa tend to have a high occurrence rate of the CMT2B1 causing autosomal recessive LMNA “Arg298Cys” mutation (Tazir et al., (2004)).

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