Article
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Experimental neurology - 1 Jan 2011
Cassereau Julien, Chevrollier Arnaud, Gueguen Naïg, Desquiret Valérie, Verny Christophe, Nicolas Guillaume, Dubas Frédéric, Amati-Bonneau Patrizia, Reynier Pascal, Bonneau Dominique, Procaccio Vincent
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease represents a large group of clinically and genetically heterogeneous disorders leading to inherited peripheral neuropathies affecting motor and sensory neurons. Mutations in the ganglioside-induced differentiation-associated-protein 1 gene (GDAP1), which encodes a protein anchored to the mitochondrial outer membrane, are usually associated with the recessive forms of CMT disease...
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