CMT1G

CMT1G

Demyelinating

Autosomal Dominant

Associated Gene

PMP2

Chromosome

8q21.13

Zygosity

Heterozygous

CMT1G is caused by mutations in the PMP2 gene. Not to be confused with the PMP22 gene, the PMP2 gene lives at chromosome 8q21.13, and encodes a protein that is important for peripheral nerve myelin stability. Conversely, the PMP22 gene encodes Schwann cells to produce peripheral nerve myelin.

CMT1G symptoms usually occur by the time the CMTer is 20 years old, and CMT1G is marked by difficulties with walking, absent reflexes, and absent sensory perception in the lower limbs.

Rev. Date

1/10/21