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

M. Muglia, PhD;, M. Zappia, MD;, V. Timmerman, PhD;, P. Valentino, MD, A. L. Gabriele, PhD, F. L. Conforti, PhD, P. De Jonghe, MD, PhD, M. Ragno, MD;, R. Mazzei, PhD, M. Sabatelli, MD;, G. Nicoletti, MD, A. M. Patitucci, PhD, R. L. Oliveri, MD, MSc, F. Bono, MD, A. Gambardella, MD and A. Quattrone, MD

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.



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  		Figure. Pedigree of the Italian Charcot–Marie–Tooth type 2 (CMT2) family, showing the haplotypes of the patients. Circles = women; squares = men; slashed symbols = deceased individuals; filled symbols = affected individuals; open symbols = unaffected individuals; shaded symbols = disease status unknown; black bars = disease haplotype linked to CMT2A.

 




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