CMTRIC

CMTRIC

Intermediate

Autosomal Recessive

Associated Gene

PLEKHG5

Chromosome

1p36.31

Zygosity

Can Be Homozygous or Can Be Compound Heterozygous

Recessive Intermediate CMT-C is caused by autosomal recessive mutations in the PLEKHG5 gene. CMTers who have CMTRIC will usually experience lower limb weakness, atrophy, and sensory loss resulting in walking difficulties. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. The age of symptom onset and disease severity are variable.

Rev. Date

1/10/21

Sources

CMTA
INC