Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated.

Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family.