Guest guest Posted August 26, 2009 Report Share Posted August 26, 2009 Neurogenetics. 2009 Aug 25. Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes. Gouvea SP, S Borghetti VH, Bueno KC, Genari AB, Lourenço CM, Sobreira C, Barreira AA, Marques W Jr. Department of Neurosciences and Behavioral Sciences, School of Medicine of Ribeirão Preto, University of São o, São o, Brazil. Compound forms of Charcot-Marie-Tooth (CMT) disease have been recently associated with unusually severe neuropathies, an observation that prompted the proposition that the additive effects of two mutations should be searched in patients whose clinical severity falls outside the common CMT phenotypes. In this report, we present a father and a daughter with a very mild and unusual disease that segregates with two mutations in PMP22 gene, the 17p11.2-p12 duplication and a Ser72Leu point mutation. We propose that the deleterious effects of each mutation are partially compensated by the functional effect of the other. Quote Link to comment Share on other sites More sharing options...
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