Article
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes.
Neurogenetics - 1 Feb 2010
Gouvea Silmara P, S Borghetti Vinícius H, Bueno Keity C, Genari Adriana B, Lourenço Charles M, Sobreira Claudia, Barreira Amilton A, Marques Wilson
Abstract excerpt
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...
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