Article
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
American journal of human genetics - 1 Jun 1999
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
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individuals (31 affected, 28...
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