Article
Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.
Neuromuscular disorders : NMD - 1 Dec 2007
Van Vught Paul W J, Van Wijk Joost, Bradley Ted E J, Plasmans Dagmar, Jakobs Marja E, Veldink Jan H, de Jong J M B Vianney, Van den Berg Leonard H, Baas Frank
Abstract excerpt
Growth factors, such as ciliary neurotrophic factor (CNTF), have been implicated in neuronal survival and proliferation. About 2% of the human population is homozygous for a polymorphism that induces truncated and biologically inactive CNTF but does not obviously change the phenotype. In a population of patients with hereditary neuropathy, a higher rate of the CNTF null mutation would indicate greater...
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