Article
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.
Annals of neurology - 1 Apr 2007
Loiseau Dominique, Chevrollier Arnaud, Verny Christophe, Guillet Virginie, Gueguen Naïg, Pou de Crescenzo Marie-Anne, Ferré Marc, Malinge Marie-Claire, Guichet Agnès, Nicolas Guillaume, Amati-Bonneau Patrizia, Malthièry Yves, Bonneau Dominique, Reynier Pascal
Abstract excerpt
OBJECTIVE: Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the cases of Charcot-Marie-Tooth disease type 2 (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2-related CMT2A. METHODS: Mitochondrial network morphology and metabolism were studied in cultures of skin fibroblasts obtained from four CMT2A patients harboring novel missense mutations of the MFN2 gene....
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