Article
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
Journal of the peripheral nervous system : JPNS - 1 Dec 2016
Codron Philippe, Chevrollier Arnaud, Kane Mariame S, Echaniz-Laguna Andoni, Latour Philippe, Reynier Pascal, Bonneau Dominique, Verny Christophe, Procaccio Vincent, Lenaers Guy, Cassereau Julien
Abstract excerpt
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early-onset autosomal recessive CMT2A (AR-CMT2A) have been reported in recent years. In this study, we characterized the structure of the mitochondrial...
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