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  • An axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported. Transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25).
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