Amb motiu del tancament d'estiu, la validació de documents es reprendrà a partir del 28 d'agost de 2026. Disculpeu les molèsties.
Con motivo del cierre de verano, la validación de documentos se reanudará a partir del 28 de agosto de 2026. Disculpad las molestias
Due to the summer closure, document validation will resume starting August 28, 2026. We apologize for any inconvenience.

Files

658611.pdf (1.68 MB)

Document type

Article

Version

Published version

Publication date

2011-04-26

All rights reserved

Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/178213

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Journal Title

Authors

Director/Tutor

Journal ISSN

Volume Title

Related resource

https://doi.org/10.1212/WNL.0b013e318217e77d

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.

Subject

Mitocondris, Proteïnes de membrana, Teixit nerviós, Genètica

Subject (English)

Mitochondria, Membrane proteins, Nerve tissue, Genetics

Citation

Collections

Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citation

CASSEREAU, Julien, et al. Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT. Neurology. 2011. Vol. 76, num. 17, pags. 1524-1526. ISSN 0028-3878. [consulted: 11 of August of 2026]. Available at: https://hdl.handle.net/2445/178213

Export metadata

JSON - METS

Share record