Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/178213
Title: | Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT |
Author: | Cassereau, Julien Casasnovas Pons, Carlos Gueguen, Naïg Malinge, Marie Claire Guillet, Virginie Reynier, Pascal Bonneau, Dominique Amati-Bonneau, Patrizia Banchs, Isabel Volpini Bertrán, Víctor Procaccio, Vincent Chevrollier, Arnaud |
Keywords: | Mitocondris Proteïnes de membrana Teixit nerviós Genètica Mitochondria Membrane proteins Nerve tissue Genetics |
Issue Date: | 26-Apr-2011 |
Publisher: | Lippincott, Williams & Wilkins. Wolters Kluwer Health |
Abstract: | Mutations in the MFN2 gene are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a dominant axonal CMT, whereas mutations in GDAP1 are associated with recessive demyelinating CMT (CMT4A), recessive axonal CMT (AR-CMT2), and dominant axonal CMT (CMT2K). Both proteins are involved in energy metabolism and dynamics of the mitochondrial network. We have previously reported that, in fibroblasts from patients with CMT, MFN2 mutations resulted in a mitochondrial energy coupling defect, whereas dominant mutation in GDAP1 resulted in defective complex I activity. In this study, we investigated mitochondrial bioenergetics from a severely affected patient with CMT harboring combined mutations in both GDAP1 and MFN2 genes. |
Note: | Reproducció del document publicat a: https://doi.org/10.1212/WNL.0b013e318217e77d |
It is part of: | Neurology, 2011, vol. 76, num. 17, p. 1524-1526 |
URI: | http://hdl.handle.net/2445/178213 |
Related resource: | https://doi.org/10.1212/WNL.0b013e318217e77d |
ISSN: | 0028-3878 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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658611.pdf | 1.72 MB | Adobe PDF | View/Open |
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