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Objective. The description of a new genetic association with late-onset axonal Charcot-MarieTooth disease (CMT). Method. A 57-year-old Brazilian woman presented with a slowly progressive history of paresthesia, muscle wasting and weakness in her lower limbs since age 50 years. Examination disclosed peroneal amyotrophy, bilateral pes cavus, mild distal weakness, reduced vibration, pain and temperature sensation in the lower limbs and brisk

Late adult-onset Hereditary Sensory and Motor Neuropathy due to TECPR2 mutations