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.