Article
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.
Experimental neurology - 1 Jan 2020
Cassereau Julien, Chevrollier Arnaud, Codron Philippe, Goizet Cyril, Gueguen Naïg, Verny Christophe, Reynier Pascal, Bonneau Dominique, Lenaers Guy, Procaccio Vincent
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is a common inherited peripheral neuropathy. The CMT2K axonal form is associated with GDAP1 dominant mutations, which according to the affected domain cause a gradient of severity. Indeed, the p.C240Y mutation, located within GDAP1 glutathione S-transferase (GST) domain and associated to a mitochondrial complex I defect, is related to a faster disease progression, compared to...
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