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

From the Institute of Experimental Medicine and Biotechnology (Drs. Muglia, Gabriele, Conforti, Mazzei, Patitucci, Oliveri, Gambardella, and Quattrone), National Research Council, Piano Lago di Mangone–Cosenza; Institute of Neurology (Drs. Zappia, Valentino, Oliveri, Bono, Gambardella, and Quattrone), School of Medicine, Catanzaro; Institute of Neurology (Dr. Ragno), Hospital G. e C. Mazzoni, Ascoli Piceno; Institute of Neurology (Dr. Sabatelli), Catholic University, Rome, Italy; and Flanders Interuniversity Institute for Biotechnology (VIB) (Dr. Timmerman), Born–Bunge Foundation (BBS), University of Antwerpen (UIA), Antwerpen, Belgium.

Address correspondence and reprint requests to Prof. Aldo Quattrone, Cattedra ed U.O. di Neurologia, Facoltà di Medicina e Chirurgia "Magna Graecia," Via Tommaso Campanella, 88100 Catanzaro, Italy; e-mail: neurol.unicz{at}interbusiness.it

The authors report a large pedigree from southern Italy with Charcot–Marie–Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35–p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.

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