A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Por Kovach, M J, Lin, J P, Boyadjiev, S, Campbell, K, Mazzeo, L, Herman, K, Rimer, L A, Frank, W, Llewellyn, B, Jabs, E W, Gelber, D, Kimonis, V E
Publicado em 1999