A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. - Kovach,M.J.; Lin,J.P.; Boyadjiev,S.; Campbell,K.; Mazzeo,L.; Herman,K.; Rimer,L.A.; Frank,W.; Llewellyn,B.; Wang,J.abs.; Gelber,D.; Kimonis,V.E. (Am J Hum Genet, 1999)