CMTRIA

CMTRIA

Intermediate

Autosomal Recessive

Associated Gene

GDAP1

Chromosome

8q21.11

Zygosity

Homozygous

Recessive Intermediate CMT-A is caused by autosomal recessive mutations in the GDAP1 gene. Symptom onset is usually in early childhood. CMTers who have CMTRIA usually experience walking difficulties and sensory impairment in the lower limbs before the upper limbs are affected.

CMTRIA is extremely rare.

Rev. Date

1/10/21

Sources

CMTA
INC