Title: MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
Authors: Verhoeven, Kristien * ×
Claeys, Kristl *
Züchner, Stephan
Schröder, J Michael
Weis, Joachim
Ceuterick, Chantal
Jordanova, Albena
Nelis, Eva
De Vriendt, Els
Van Hul, Matthias
Seeman, Pavel
Mazanec, Radim
Saifi, Gulam Mustafa
Szigeti, Kinga
Mancias, Pedro
Butler, Ian J
Kochanski, Andrzej
Ryniewicz, Barbara
De Bleecker, Jan
Van den Bergh, Peter
Verellen, Christine
Van Coster, Rudy
Goemans, Nathalie
Auer-Grumbach, Michaela
Robberecht, Wim
Rasic, Vedrana Milic
Nevo, Yoram
Tournev, Ivajlo
Guergueltcheva, Velina
Roelens, Filip
Vieregge, Peter
Vinci, Paolo
Moreno, Maria Teresa
Christen, H-J
Shy, Michael E
Lupski, James R
Vance, Jeffery M
De Jonghe, Peter
Timmerman, Vincent #
Issue Date: Aug-2006
Publisher: Macmillan
Series Title: Brain vol:129 issue:Pt 8 pages:2093-2102
Abstract: Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients with distinct CMT phenotypes. In 29 probands, we identified 22 distinct MFN2 mutations, and 14 of these mutations have not been reported before. All mutations were located in the cytoplasmic domains of the MFN2 protein. Patients presented with a classical but rather severe CMT phenotype, since 28% of them were wheelchair-dependent. Some had additional features as optic atrophy. Most patients had an early onset and severe disease status, whereas a smaller group experienced a later onset and milder disease course. Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials. Examination of sural nerve specimens showed loss of large myelinated fibres and degenerative mitochondrial changes. In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population.
ISSN: 0006-8950
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Organ Systems (+)
Laboratory for Muscle Diseases and Neuropathies
Research Group Experimental Neurology
Molecular and Vascular Biology
Laboratory for Neurobiology
* (joint) first author
× corresponding author
# (joint) last author

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