Article
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Neuromuscular disorders : NMD - 1 Oct 2002
Street V A, Meekins G, Lipe H P, Seltzer W K, Carter G T, Kraft G H, Bird T D
Abstract excerpt
Charcot-Marie-Tooth Hereditary Neuropathy is a heterogeneous syndrome associated with mutations in several different genes including peripheral myelin protein 22, myelin P0, connexin 32, and early growth response 2. There is considerable variability in the phenotypic expression of this syndrome and the relationship of this variability to mutation genotypes requires extensive analysis. Here we describe the...
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