Article
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
Journal of the peripheral nervous system : JPNS - 1 Sept 2006
Kabzińska Dagmara, Perez-Olle Raul, Goryunov Dmitry, Drac Hanna, Ryniewicz Barbara, Hausmanowa-Petrusewicz Irena, Kochański Andrzej, Liem Ronald K H
Abstract excerpt
Recent studies have shown that mutations in neurofilament light subunit gene (NEFL) cause Charcot-Marie-Tooth (CMT) disease. Since the first description of the Gln333Pro mutation in the NEFL gene, 10 pathogenic mutations in the NEFL gene have been reported in patients affected with CMT disease. We report a novel I214M amino acid substitution in the NEFL gene in two unrelated patients affected with CMT. Because...
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