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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
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