Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy

The authors report a large pedigree from southern Italy with Charcot-Marie- Tooth disease type 2A (CMT2A). The clinical picture was uniform and charact erized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impai rment in the feet. Significant linkage to the CMT2A locus on chromosome 1p3 5-p36 was detected. Based on informative recombination in affected individu als, the authors mapped the CMT2A gene between D1S160 and D1S170.