MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
Identifieur interne : 000E69 ( Istex/Corpus ); précédent : 000E68; suivant : 000E70MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
Auteurs : Kristien Verhoeven ; Kristl G. Claeys ; Stephan Züchner ; J. Michael Schröder ; Joachim Weis ; Chantal Ceuterick ; Albena Jordanova ; Eva Nelis ; Els De Vriendt ; Matthias Van Hul ; Pavel Seeman ; Radim Mazanec ; Gulam Mustafa Saifi ; Kinga Szigeti ; Pedro Mancias ; Ian J. Butler ; Andrzej Kochanski ; Barbara Ryniewicz ; Jan De Bleecker ; Peter Van Den Bergh ; Christine Verellen ; Rudy Van Coster ; Nathalie Goemans ; Michaela Auer-Grumbach ; Wim Robberecht ; Vedrana Milic Rasic ; Yoram Nevo ; Ivajlo Tournev ; Velina Guergueltcheva ; Filip Roelens ; Peter Vieregge ; Paolo Vinci ; Maria Teresa Moreno ; H.-J. Christen ; Michael E. Shy ; James R. Lupski ; Jeffery M. Vance ; Peter De Jonghe ; Vincent TimmermanSource :
- Brain [ 0006-8950 ] ; 2006-05-19.
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.
Url:
DOI: 10.1093/brain/awl126
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ISTEX:E6C7A6E3FDB95DED793A90DE8C592886A26B0424Le document en format XML
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<author><name sortKey="Verhoeven, Kristien" sort="Verhoeven, Kristien" uniqKey="Verhoeven K" first="Kristien" last="Verhoeven">Kristien Verhoeven</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
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<author><name sortKey="Claeys, Kristl G" sort="Claeys, Kristl G" uniqKey="Claeys K" first="Kristl G." last="Claeys">Kristl G. Claeys</name>
<affiliation><mods:affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Child Neurology, University Hospital of Gent Gent</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
<affiliation><mods:affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schroder, J Michael" sort="Schroder, J Michael" uniqKey="Schroder J" first="J. Michael" last="Schröder">J. Michael Schröder</name>
<affiliation><mods:affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name>
<affiliation><mods:affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ceuterick, Chantal" sort="Ceuterick, Chantal" uniqKey="Ceuterick C" first="Chantal" last="Ceuterick">Chantal Ceuterick</name>
<affiliation><mods:affiliation>Laboratory of Neuropathology, Institute Born Bunge, University of Antwerp Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Neurology, Klinikum Lippe-Lemgo Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nelis, Eva" sort="Nelis, Eva" uniqKey="Nelis E" first="Eva" last="Nelis">Eva Nelis</name>
<affiliation><mods:affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="De Vriendt, Els" sort="De Vriendt, Els" uniqKey="De Vriendt E" first="Els" last="De Vriendt">Els De Vriendt</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Hul, Matthias" sort="Van Hul, Matthias" uniqKey="Van Hul M" first="Matthias" last="Van Hul">Matthias Van Hul</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Seeman, Pavel" sort="Seeman, Pavel" uniqKey="Seeman P" first="Pavel" last="Seeman">Pavel Seeman</name>
<affiliation><mods:affiliation>Department of Neurology, Sofia Medical University Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mazanec, Radim" sort="Mazanec, Radim" uniqKey="Mazanec R" first="Radim" last="Mazanec">Radim Mazanec</name>
<affiliation><mods:affiliation>DNA Laboratory, Department of Child Neurology, Charles University Prague Prague, Czech Republic</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Saifi, Gulam Mustafa" sort="Saifi, Gulam Mustafa" uniqKey="Saifi G" first="Gulam Mustafa" last="Saifi">Gulam Mustafa Saifi</name>
<affiliation><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Szigeti, Kinga" sort="Szigeti, Kinga" uniqKey="Szigeti K" first="Kinga" last="Szigeti">Kinga Szigeti</name>
<affiliation><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mancias, Pedro" sort="Mancias, Pedro" uniqKey="Mancias P" first="Pedro" last="Mancias">Pedro Mancias</name>
<affiliation><mods:affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Butler, Ian J" sort="Butler, Ian J" uniqKey="Butler I" first="Ian J." last="Butler">Ian J. Butler</name>
<affiliation><mods:affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kochanski, Andrzej" sort="Kochanski, Andrzej" uniqKey="Kochanski A" first="Andrzej" last="Kochanski">Andrzej Kochanski</name>
<affiliation><mods:affiliation>Department of Neurology, Second School of Medicine, Charles University Prague Prague, Czech Republic</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ryniewicz, Barbara" sort="Ryniewicz, Barbara" uniqKey="Ryniewicz B" first="Barbara" last="Ryniewicz">Barbara Ryniewicz</name>
<affiliation><mods:affiliation>Neuromuscular Unit, Mossakowski Medical Research Center Warszawa, Poland</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="De Bleecker, Jan" sort="De Bleecker, Jan" uniqKey="De Bleecker J" first="Jan" last="De Bleecker">Jan De Bleecker</name>
<affiliation><mods:affiliation>Department of Neurology, University Hospital of Gent Gent</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name>
<affiliation><mods:affiliation>Division of Neurology, University Hospital Saint-Luc Brussels</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Verellen, Christine" sort="Verellen, Christine" uniqKey="Verellen C" first="Christine" last="Verellen">Christine Verellen</name>
<affiliation><mods:affiliation>Center of Human Genetics, Catholic University of Louvain Brussels</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Coster, Rudy" sort="Van Coster, Rudy" uniqKey="Van Coster R" first="Rudy" last="Van Coster">Rudy Van Coster</name>
<affiliation><mods:affiliation>Department of Child Neurology, University Hospital of Gent Gent</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Goemans, Nathalie" sort="Goemans, Nathalie" uniqKey="Goemans N" first="Nathalie" last="Goemans">Nathalie Goemans</name>
<affiliation><mods:affiliation>Child Neurology, University of Leuven Campus Gasthuisberg, Leuven</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Auer Grumbach, Michaela" sort="Auer Grumbach, Michaela" uniqKey="Auer Grumbach M" first="Michaela" last="Auer-Grumbach">Michaela Auer-Grumbach</name>
<affiliation><mods:affiliation>Department of Neurology, Medical University Warszawa, Poland</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name>
<affiliation><mods:affiliation>Laboratory for Neurobiology, University of Leuven Campus Gasthuisberg, Leuven</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Milic Rasic, Vedrana" sort="Milic Rasic, Vedrana" uniqKey="Milic Rasic V" first="Vedrana" last="Milic Rasic">Vedrana Milic Rasic</name>
<affiliation><mods:affiliation>Institute of Medical Biology and Human Genetics, Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz Graz, Austria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name>
<affiliation><mods:affiliation>Clinic for Child Neurology and Psychiatry, University of Belgrade Belgrade, Serbia and Montenegro</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Tournev, Ivajlo" sort="Tournev, Ivajlo" uniqKey="Tournev I" first="Ivajlo" last="Tournev">Ivajlo Tournev</name>
<affiliation><mods:affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
<affiliation><mods:affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roelens, Filip" sort="Roelens, Filip" uniqKey="Roelens F" first="Filip" last="Roelens">Filip Roelens</name>
<affiliation><mods:affiliation>Division of Pediatric Neurology, ‘Heilig-Hart’ Hospital Roeselare Roeselare, Belgium</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation><mods:affiliation>Department of Child Neurology, Tel Aviv University Tel Aviv, Israel</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vinci, Paolo" sort="Vinci, Paolo" uniqKey="Vinci P" first="Paolo" last="Vinci">Paolo Vinci</name>
<affiliation><mods:affiliation>Department of Rehabilitation of Charcot–Marie–Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini Rome, Italy</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Moreno, Maria Teresa" sort="Moreno, Maria Teresa" uniqKey="Moreno M" first="Maria Teresa" last="Moreno">Maria Teresa Moreno</name>
<affiliation><mods:affiliation>Division of Infectious Diseases, Hospital del Nino, University of Panama Panama City, Panama</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Christen, H J" sort="Christen, H J" uniqKey="Christen H" first="H.-J." last="Christen">H.-J. Christen</name>
<affiliation><mods:affiliation>Department of Neuropediatrics, Children's Hospital ‘Auf der Bult’ Hannover</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shy, Michael E" sort="Shy, Michael E" uniqKey="Shy M" first="Michael E." last="Shy">Michael E. Shy</name>
<affiliation><mods:affiliation>Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University Detroit, USA</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<affiliation><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
<affiliation><mods:affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<affiliation><mods:affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Division of Neurology, University Hospital of Antwerp (UZA) Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Timmerman, Vincent" sort="Timmerman, Vincent" uniqKey="Timmerman V" first="Vincent" last="Timmerman">Vincent Timmerman</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:E6C7A6E3FDB95DED793A90DE8C592886A26B0424</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1093/brain/awl126</idno>
<idno type="url">https://api.istex.fr/document/E6C7A6E3FDB95DED793A90DE8C592886A26B0424/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">000E69</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a">MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2</title>
<author><name sortKey="Verhoeven, Kristien" sort="Verhoeven, Kristien" uniqKey="Verhoeven K" first="Kristien" last="Verhoeven">Kristien Verhoeven</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Claeys, Kristl G" sort="Claeys, Kristl G" uniqKey="Claeys K" first="Kristl G." last="Claeys">Kristl G. Claeys</name>
<affiliation><mods:affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Child Neurology, University Hospital of Gent Gent</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
<affiliation><mods:affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schroder, J Michael" sort="Schroder, J Michael" uniqKey="Schroder J" first="J. Michael" last="Schröder">J. Michael Schröder</name>
<affiliation><mods:affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name>
<affiliation><mods:affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ceuterick, Chantal" sort="Ceuterick, Chantal" uniqKey="Ceuterick C" first="Chantal" last="Ceuterick">Chantal Ceuterick</name>
<affiliation><mods:affiliation>Laboratory of Neuropathology, Institute Born Bunge, University of Antwerp Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Neurology, Klinikum Lippe-Lemgo Germany</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nelis, Eva" sort="Nelis, Eva" uniqKey="Nelis E" first="Eva" last="Nelis">Eva Nelis</name>
<affiliation><mods:affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="De Vriendt, Els" sort="De Vriendt, Els" uniqKey="De Vriendt E" first="Els" last="De Vriendt">Els De Vriendt</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Hul, Matthias" sort="Van Hul, Matthias" uniqKey="Van Hul M" first="Matthias" last="Van Hul">Matthias Van Hul</name>
<affiliation><mods:affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Seeman, Pavel" sort="Seeman, Pavel" uniqKey="Seeman P" first="Pavel" last="Seeman">Pavel Seeman</name>
<affiliation><mods:affiliation>Department of Neurology, Sofia Medical University Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mazanec, Radim" sort="Mazanec, Radim" uniqKey="Mazanec R" first="Radim" last="Mazanec">Radim Mazanec</name>
<affiliation><mods:affiliation>DNA Laboratory, Department of Child Neurology, Charles University Prague Prague, Czech Republic</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Saifi, Gulam Mustafa" sort="Saifi, Gulam Mustafa" uniqKey="Saifi G" first="Gulam Mustafa" last="Saifi">Gulam Mustafa Saifi</name>
<affiliation><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Szigeti, Kinga" sort="Szigeti, Kinga" uniqKey="Szigeti K" first="Kinga" last="Szigeti">Kinga Szigeti</name>
<affiliation><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mancias, Pedro" sort="Mancias, Pedro" uniqKey="Mancias P" first="Pedro" last="Mancias">Pedro Mancias</name>
<affiliation><mods:affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Butler, Ian J" sort="Butler, Ian J" uniqKey="Butler I" first="Ian J." last="Butler">Ian J. Butler</name>
<affiliation><mods:affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kochanski, Andrzej" sort="Kochanski, Andrzej" uniqKey="Kochanski A" first="Andrzej" last="Kochanski">Andrzej Kochanski</name>
<affiliation><mods:affiliation>Department of Neurology, Second School of Medicine, Charles University Prague Prague, Czech Republic</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ryniewicz, Barbara" sort="Ryniewicz, Barbara" uniqKey="Ryniewicz B" first="Barbara" last="Ryniewicz">Barbara Ryniewicz</name>
<affiliation><mods:affiliation>Neuromuscular Unit, Mossakowski Medical Research Center Warszawa, Poland</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="De Bleecker, Jan" sort="De Bleecker, Jan" uniqKey="De Bleecker J" first="Jan" last="De Bleecker">Jan De Bleecker</name>
<affiliation><mods:affiliation>Department of Neurology, University Hospital of Gent Gent</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name>
<affiliation><mods:affiliation>Division of Neurology, University Hospital Saint-Luc Brussels</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Verellen, Christine" sort="Verellen, Christine" uniqKey="Verellen C" first="Christine" last="Verellen">Christine Verellen</name>
<affiliation><mods:affiliation>Center of Human Genetics, Catholic University of Louvain Brussels</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Coster, Rudy" sort="Van Coster, Rudy" uniqKey="Van Coster R" first="Rudy" last="Van Coster">Rudy Van Coster</name>
<affiliation><mods:affiliation>Department of Child Neurology, University Hospital of Gent Gent</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Goemans, Nathalie" sort="Goemans, Nathalie" uniqKey="Goemans N" first="Nathalie" last="Goemans">Nathalie Goemans</name>
<affiliation><mods:affiliation>Child Neurology, University of Leuven Campus Gasthuisberg, Leuven</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Auer Grumbach, Michaela" sort="Auer Grumbach, Michaela" uniqKey="Auer Grumbach M" first="Michaela" last="Auer-Grumbach">Michaela Auer-Grumbach</name>
<affiliation><mods:affiliation>Department of Neurology, Medical University Warszawa, Poland</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name>
<affiliation><mods:affiliation>Laboratory for Neurobiology, University of Leuven Campus Gasthuisberg, Leuven</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Milic Rasic, Vedrana" sort="Milic Rasic, Vedrana" uniqKey="Milic Rasic V" first="Vedrana" last="Milic Rasic">Vedrana Milic Rasic</name>
<affiliation><mods:affiliation>Institute of Medical Biology and Human Genetics, Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz Graz, Austria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name>
<affiliation><mods:affiliation>Clinic for Child Neurology and Psychiatry, University of Belgrade Belgrade, Serbia and Montenegro</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Tournev, Ivajlo" sort="Tournev, Ivajlo" uniqKey="Tournev I" first="Ivajlo" last="Tournev">Ivajlo Tournev</name>
<affiliation><mods:affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
<affiliation><mods:affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roelens, Filip" sort="Roelens, Filip" uniqKey="Roelens F" first="Filip" last="Roelens">Filip Roelens</name>
<affiliation><mods:affiliation>Division of Pediatric Neurology, ‘Heilig-Hart’ Hospital Roeselare Roeselare, Belgium</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation><mods:affiliation>Department of Child Neurology, Tel Aviv University Tel Aviv, Israel</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vinci, Paolo" sort="Vinci, Paolo" uniqKey="Vinci P" first="Paolo" last="Vinci">Paolo Vinci</name>
<affiliation><mods:affiliation>Department of Rehabilitation of Charcot–Marie–Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini Rome, Italy</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Moreno, Maria Teresa" sort="Moreno, Maria Teresa" uniqKey="Moreno M" first="Maria Teresa" last="Moreno">Maria Teresa Moreno</name>
<affiliation><mods:affiliation>Division of Infectious Diseases, Hospital del Nino, University of Panama Panama City, Panama</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Christen, H J" sort="Christen, H J" uniqKey="Christen H" first="H.-J." last="Christen">H.-J. Christen</name>
<affiliation><mods:affiliation>Department of Neuropediatrics, Children's Hospital ‘Auf der Bult’ Hannover</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shy, Michael E" sort="Shy, Michael E" uniqKey="Shy M" first="Michael E." last="Shy">Michael E. Shy</name>
<affiliation><mods:affiliation>Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University Detroit, USA</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<affiliation><mods:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
<affiliation><mods:affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<affiliation><mods:affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Division of Neurology, University Hospital of Antwerp (UZA) Antwerpen</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Timmerman, Vincent" sort="Timmerman, Vincent" uniqKey="Timmerman V" first="Vincent" last="Timmerman">Vincent Timmerman</name>
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<front><div type="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.</div>
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<json:item><name>Nathalie Goemans</name>
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<json:item><name>Michaela Auer-Grumbach</name>
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<json:item><name>Yoram Nevo</name>
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<json:item><name>Ivajlo Tournev</name>
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<json:item><name>Peter Vieregge</name>
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<json:item><name>Maria Teresa Moreno</name>
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<json:item><name>Jeffery M. Vance</name>
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<json:item><name>Peter De Jonghe</name>
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<json:item><name>Vincent Timmerman</name>
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<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.</abstract>
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<notesStmt><note>Abbreviations CMAPcompound motor action potentials CMTCharcot–Marie–Tooth disease type 1</note>
<note>*These authors contributed equally to this work.</note>
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<author xml:id="author-1"><persName><forename type="first">Kristien</forename>
<surname>Verhoeven</surname>
</persName>
<note type="biography">*These authors contributed equally to this work.</note>
<affiliation>*These authors contributed equally to this work.</affiliation>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-2"><persName><forename type="first">Kristl G.</forename>
<surname>Claeys</surname>
</persName>
<note type="biography">*These authors contributed equally to this work.</note>
<affiliation>*These authors contributed equally to this work.</affiliation>
<affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Department of Child Neurology, University Hospital of Gent Gent</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-3"><persName><forename type="first">Stephan</forename>
<surname>Züchner</surname>
</persName>
<affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</affiliation>
<affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-4"><persName><forename type="first">J. Michael</forename>
<surname>Schröder</surname>
</persName>
<affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-5"><persName><forename type="first">Joachim</forename>
<surname>Weis</surname>
</persName>
<affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-6"><persName><forename type="first">Chantal</forename>
<surname>Ceuterick</surname>
</persName>
<affiliation>Laboratory of Neuropathology, Institute Born Bunge, University of Antwerp Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-7"><persName><forename type="first">Albena</forename>
<surname>Jordanova</surname>
</persName>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Department of Neurology, Klinikum Lippe-Lemgo Germany</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-8"><persName><forename type="first">Eva</forename>
<surname>Nelis</surname>
</persName>
<affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-9"><persName><forename type="first">Els</forename>
<surname>De Vriendt</surname>
</persName>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-10"><persName><forename type="first">Matthias</forename>
<surname>Van Hul</surname>
</persName>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-11"><persName><forename type="first">Pavel</forename>
<surname>Seeman</surname>
</persName>
<affiliation>Department of Neurology, Sofia Medical University Sofia, Bulgaria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-12"><persName><forename type="first">Radim</forename>
<surname>Mazanec</surname>
</persName>
<affiliation>DNA Laboratory, Department of Child Neurology, Charles University Prague Prague, Czech Republic</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-13"><persName><forename type="first">Gulam Mustafa</forename>
<surname>Saifi</surname>
</persName>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-14"><persName><forename type="first">Kinga</forename>
<surname>Szigeti</surname>
</persName>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-15"><persName><forename type="first">Pedro</forename>
<surname>Mancias</surname>
</persName>
<affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-16"><persName><forename type="first">Ian J.</forename>
<surname>Butler</surname>
</persName>
<affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-17"><persName><forename type="first">Andrzej</forename>
<surname>Kochanski</surname>
</persName>
<affiliation>Department of Neurology, Second School of Medicine, Charles University Prague Prague, Czech Republic</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-18"><persName><forename type="first">Barbara</forename>
<surname>Ryniewicz</surname>
</persName>
<affiliation>Neuromuscular Unit, Mossakowski Medical Research Center Warszawa, Poland</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-19"><persName><forename type="first">Jan</forename>
<surname>De Bleecker</surname>
</persName>
<affiliation>Department of Neurology, University Hospital of Gent Gent</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-20"><persName><forename type="first">Peter</forename>
<surname>Van den Bergh</surname>
</persName>
<affiliation>Division of Neurology, University Hospital Saint-Luc Brussels</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-21"><persName><forename type="first">Christine</forename>
<surname>Verellen</surname>
</persName>
<affiliation>Center of Human Genetics, Catholic University of Louvain Brussels</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-22"><persName><forename type="first">Rudy</forename>
<surname>Van Coster</surname>
</persName>
<affiliation>Department of Child Neurology, University Hospital of Gent Gent</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-23"><persName><forename type="first">Nathalie</forename>
<surname>Goemans</surname>
</persName>
<affiliation>Child Neurology, University of Leuven Campus Gasthuisberg, Leuven</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-24"><persName><forename type="first">Michaela</forename>
<surname>Auer-Grumbach</surname>
</persName>
<affiliation>Department of Neurology, Medical University Warszawa, Poland</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-25"><persName><forename type="first">Wim</forename>
<surname>Robberecht</surname>
</persName>
<affiliation>Laboratory for Neurobiology, University of Leuven Campus Gasthuisberg, Leuven</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-26"><persName><forename type="first">Vedrana</forename>
<surname>Milic Rasic</surname>
</persName>
<affiliation>Institute of Medical Biology and Human Genetics, Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz Graz, Austria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-27"><persName><forename type="first">Yoram</forename>
<surname>Nevo</surname>
</persName>
<affiliation>Clinic for Child Neurology and Psychiatry, University of Belgrade Belgrade, Serbia and Montenegro</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-28"><persName><forename type="first">Ivajlo</forename>
<surname>Tournev</surname>
</persName>
<affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-29"><persName><forename type="first">Velina</forename>
<surname>Guergueltcheva</surname>
</persName>
<affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-30"><persName><forename type="first">Filip</forename>
<surname>Roelens</surname>
</persName>
<affiliation>Division of Pediatric Neurology, ‘Heilig-Hart’ Hospital Roeselare Roeselare, Belgium</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-31"><persName><forename type="first">Peter</forename>
<surname>Vieregge</surname>
</persName>
<affiliation>Department of Child Neurology, Tel Aviv University Tel Aviv, Israel</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-32"><persName><forename type="first">Paolo</forename>
<surname>Vinci</surname>
</persName>
<affiliation>Department of Rehabilitation of Charcot–Marie–Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini Rome, Italy</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-33"><persName><forename type="first">Maria Teresa</forename>
<surname>Moreno</surname>
</persName>
<affiliation>Division of Infectious Diseases, Hospital del Nino, University of Panama Panama City, Panama</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-34"><persName><forename type="first">H.-J.</forename>
<surname>Christen</surname>
</persName>
<affiliation>Department of Neuropediatrics, Children's Hospital ‘Auf der Bult’ Hannover</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-35"><persName><forename type="first">Michael E.</forename>
<surname>Shy</surname>
</persName>
<affiliation>Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University Detroit, USA</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-36"><persName><forename type="first">James R.</forename>
<surname>Lupski</surname>
</persName>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-37"><persName><forename type="first">Jeffery M.</forename>
<surname>Vance</surname>
</persName>
<affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-38"><persName><forename type="first">Peter</forename>
<surname>De Jonghe</surname>
</persName>
<affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Division of Neurology, University Hospital of Antwerp (UZA) Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
<author xml:id="author-39"><persName><forename type="first">Vincent</forename>
<surname>Timmerman</surname>
</persName>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
</author>
</analytic>
<monogr><title level="j">Brain</title>
<idno type="pISSN">0006-8950</idno>
<idno type="eISSN">1460-2156</idno>
<imprint><publisher>Oxford University Press</publisher>
<date type="published" when="2006-05-19"></date>
<biblScope unit="volume">129</biblScope>
<biblScope unit="issue">8</biblScope>
<biblScope unit="page" from="2093">2093</biblScope>
<biblScope unit="page" to="2102">2102</biblScope>
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<idno type="istex">E6C7A6E3FDB95DED793A90DE8C592886A26B0424</idno>
<idno type="DOI">10.1093/brain/awl126</idno>
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<profileDesc><creation><date>2006-05-19</date>
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<langUsage><language ident="en">en</language>
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<abstract><p>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.</p>
</abstract>
<textClass><keywords scheme="keyword"><list><item><term>Original Articles</term>
</item>
</list>
</keywords>
</textClass>
<textClass><keywords scheme="keyword"><list><head>keywords</head>
<item><term>Charcot–Marie–Tooth type 2</term>
</item>
<item><term>mitofusin 2</term>
</item>
<item><term>genotype–phenotype correlation</term>
</item>
</list>
</keywords>
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<revisionDesc><change when="2006-05-19">Created</change>
<change when="2006-05-19">Published</change>
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<istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">brain</journal-id>
<journal-id journal-id-type="publisher-id">brainj</journal-id>
<journal-id journal-id-type="pmc">brain</journal-id>
<journal-title>Brain</journal-title>
<issn pub-type="epub">1460-2156</issn>
<issn pub-type="ppub">0006-8950</issn>
<publisher><publisher-name>Oxford University Press</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="doi">10.1093/brain/awl126</article-id>
<article-categories><subj-group><subject>Original Articles</subject>
</subj-group>
</article-categories>
<title-group><article-title><italic>MFN2</italic>
mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Verhoeven</surname>
<given-names>Kristien</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="fn" rid="fn1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Claeys</surname>
<given-names>Kristl G.</given-names>
</name>
<xref ref-type="aff" rid="au2">2</xref>
<xref ref-type="aff" rid="au6">4</xref>
<xref ref-type="fn" rid="fn1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Züchner</surname>
<given-names>Stephan</given-names>
</name>
<xref ref-type="aff" rid="au12">12</xref>
<xref ref-type="aff" rid="au16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schröder</surname>
<given-names>J. Michael</given-names>
</name>
<xref ref-type="aff" rid="au16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Weis</surname>
<given-names>Joachim</given-names>
</name>
<xref ref-type="aff" rid="au16">16</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ceuterick</surname>
<given-names>Chantal</given-names>
</name>
<xref ref-type="aff" rid="au3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jordanova</surname>
<given-names>Albena</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
<xref ref-type="aff" rid="au18">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nelis</surname>
<given-names>Eva</given-names>
</name>
<xref ref-type="aff" rid="au2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Vriendt</surname>
<given-names>Els</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Van Hul</surname>
<given-names>Matthias</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Seeman</surname>
<given-names>Pavel</given-names>
</name>
<xref ref-type="aff" rid="au20">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mazanec</surname>
<given-names>Radim</given-names>
</name>
<xref ref-type="aff" rid="au21">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saifi</surname>
<given-names>Gulam Mustafa</given-names>
</name>
<xref ref-type="aff" rid="au13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Szigeti</surname>
<given-names>Kinga</given-names>
</name>
<xref ref-type="aff" rid="au13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mancias</surname>
<given-names>Pedro</given-names>
</name>
<xref ref-type="aff" rid="au14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Butler</surname>
<given-names>Ian J.</given-names>
</name>
<xref ref-type="aff" rid="au14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kochanski</surname>
<given-names>Andrzej</given-names>
</name>
<xref ref-type="aff" rid="au22">23</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ryniewicz</surname>
<given-names>Barbara</given-names>
</name>
<xref ref-type="aff" rid="au23">24</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Bleecker</surname>
<given-names>Jan</given-names>
</name>
<xref ref-type="aff" rid="au5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Van den Bergh</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="au7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Verellen</surname>
<given-names>Christine</given-names>
</name>
<xref ref-type="aff" rid="au8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Van Coster</surname>
<given-names>Rudy</given-names>
</name>
<xref ref-type="aff" rid="au6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goemans</surname>
<given-names>Nathalie</given-names>
</name>
<xref ref-type="aff" rid="au9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Auer-Grumbach</surname>
<given-names>Michaela</given-names>
</name>
<xref ref-type="aff" rid="au24">25</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Robberecht</surname>
<given-names>Wim</given-names>
</name>
<xref ref-type="aff" rid="au10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Milic Rasic</surname>
<given-names>Vedrana</given-names>
</name>
<xref ref-type="aff" rid="au25">26</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nevo</surname>
<given-names>Yoram</given-names>
</name>
<xref ref-type="aff" rid="au26">27</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tournev</surname>
<given-names>Ivajlo</given-names>
</name>
<xref ref-type="aff" rid="au19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Guergueltcheva</surname>
<given-names>Velina</given-names>
</name>
<xref ref-type="aff" rid="au19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Roelens</surname>
<given-names>Filip</given-names>
</name>
<xref ref-type="aff" rid="au11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vieregge</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="au27">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vinci</surname>
<given-names>Paolo</given-names>
</name>
<xref ref-type="aff" rid="au28">28</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Moreno</surname>
<given-names>Maria Teresa</given-names>
</name>
<xref ref-type="aff" rid="au29">29</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Christen</surname>
<given-names>H.-J.</given-names>
</name>
<xref ref-type="aff" rid="au17">17</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Shy</surname>
<given-names>Michael E.</given-names>
</name>
<xref ref-type="aff" rid="au15">15</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lupski</surname>
<given-names>James R.</given-names>
</name>
<xref ref-type="aff" rid="au13">13</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vance</surname>
<given-names>Jeffery M.</given-names>
</name>
<xref ref-type="aff" rid="au12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>De Jonghe</surname>
<given-names>Peter</given-names>
</name>
<xref ref-type="aff" rid="au2">2</xref>
<xref ref-type="aff" rid="au4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Timmerman</surname>
<given-names>Vincent</given-names>
</name>
<xref ref-type="aff" rid="au1">1</xref>
</contrib>
<aff id="au1"><sup>1</sup>
<institution>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology</institution>
<addr-line>Antwerpen</addr-line>
</aff>
<aff id="au2"><sup>2</sup>
<institution>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology</institution>
<addr-line>Antwerpen</addr-line>
</aff>
<aff id="au3"><sup>3</sup>
<institution>Laboratory of Neuropathology, Institute Born Bunge, University of Antwerp</institution>
<addr-line>Antwerpen</addr-line>
</aff>
<aff id="au4"><sup>4</sup>
<institution>Division of Neurology, University Hospital of Antwerp (UZA)</institution>
<addr-line>Antwerpen</addr-line>
</aff>
<aff id="au5"><sup>5</sup>
<institution>Department of Neurology, University Hospital of Gent</institution>
<addr-line>Gent</addr-line>
</aff>
<aff id="au6"><sup>6</sup>
<institution>Department of Child Neurology, University Hospital of Gent</institution>
<addr-line>Gent</addr-line>
</aff>
<aff id="au7"><sup>7</sup>
<institution>Division of Neurology, University Hospital Saint-Luc</institution>
<addr-line>Brussels</addr-line>
</aff>
<aff id="au8"><sup>8</sup>
<institution>Center of Human Genetics, Catholic University of Louvain</institution>
<addr-line>Brussels</addr-line>
</aff>
<aff id="au9"><sup>9</sup>
<institution>Child Neurology, University of Leuven</institution>
<addr-line>Campus Gasthuisberg, Leuven</addr-line>
</aff>
<aff id="au10"><sup>10</sup>
<institution>Laboratory for Neurobiology, University of Leuven</institution>
<addr-line>Campus Gasthuisberg, Leuven</addr-line>
</aff>
<aff id="au11"><sup>11</sup>
<institution>Division of Pediatric Neurology, ‘Heilig-Hart’ Hospital Roeselare</institution>
<addr-line>Roeselare, Belgium</addr-line>
</aff>
<aff id="au12"><sup>12</sup>
<institution>Center for Human Genetics, Duke University Medical Center</institution>
<addr-line>Durham, NC</addr-line>
</aff>
<aff id="au13"><sup>13</sup>
<institution>Department of Molecular and Human Genetics, Baylor College of Medicine</institution>
<addr-line>Houston, TX</addr-line>
</aff>
<aff id="au14"><sup>14</sup>
<institution>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School</institution>
<addr-line>Houston, TX</addr-line>
</aff>
<aff id="au15"><sup>15</sup>
<institution>Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University</institution>
<addr-line>Detroit, USA</addr-line>
</aff>
<aff id="au16"><sup>16</sup>
<institution>Department of Neuropathology, University Hospital</institution>
<addr-line>RWTH Aachen, Aachen</addr-line>
</aff>
<aff id="au17"><sup>17</sup>
<institution>Department of Neuropediatrics, Children's Hospital ‘Auf der Bult’</institution>
<addr-line>Hannover</addr-line>
</aff>
<aff id="au18"><sup>18</sup>
<institution>Department of Neurology, Klinikum Lippe-Lemgo</institution>
<addr-line>Germany</addr-line>
</aff>
<aff id="au19"><sup>19</sup>
<institution>Department of Molecular Pathology, Sofia Medical University</institution>
<addr-line>Sofia, Bulgaria</addr-line>
</aff>
<aff id="au20"><sup>20</sup>
<institution>Department of Neurology, Sofia Medical University</institution>
<addr-line>Sofia, Bulgaria</addr-line>
</aff>
<aff id="au21"><sup>21</sup>
<institution>DNA Laboratory, Department of Child Neurology, Charles University Prague</institution>
<addr-line>Prague, Czech Republic</addr-line>
</aff>
<aff id="au22"><sup>22</sup>
<institution>Department of Neurology, Second School of Medicine, Charles University Prague</institution>
<addr-line>Prague, Czech Republic</addr-line>
</aff>
<aff id="au23"><sup>23</sup>
<institution>Neuromuscular Unit, Mossakowski Medical Research Center</institution>
<addr-line>Warszawa, Poland</addr-line>
</aff>
<aff id="au24"><sup>24</sup>
<institution>Department of Neurology, Medical University</institution>
<addr-line>Warszawa, Poland</addr-line>
</aff>
<aff id="au25"><sup>25</sup>
<institution>Institute of Medical Biology and Human Genetics, Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz</institution>
<addr-line>Graz, Austria</addr-line>
</aff>
<aff id="au26"><sup>26</sup>
<institution>Clinic for Child Neurology and Psychiatry, University of Belgrade</institution>
<addr-line>Belgrade, Serbia and Montenegro</addr-line>
</aff>
<aff id="au27"><sup>27</sup>
<institution>Department of Child Neurology, Tel Aviv University</institution>
<addr-line>Tel Aviv, Israel</addr-line>
</aff>
<aff id="au28"><sup>28</sup>
<institution>Department of Rehabilitation of Charcot–Marie–Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini</institution>
<addr-line>Rome, Italy</addr-line>
</aff>
<aff id="au29"><sup>29</sup>
<institution>Division of Infectious Diseases, Hospital del Nino, University of Panama</institution>
<addr-line>Panama City, Panama</addr-line>
</aff>
</contrib-group>
<author-notes><corresp>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium E-mail: <email>vincent.timmerman@ua.ac.be</email>
</corresp>
<fn id="fn1"><p><sup>*</sup>
These authors contributed equally to this work.</p>
</fn>
</author-notes>
<pub-date pub-type="collection"><month>8</month>
<year>2006</year>
</pub-date>
<pub-date pub-type="epub"><day>19</day>
<month>5</month>
<year>2006</year>
</pub-date>
<volume>129</volume>
<issue>8</issue>
<fpage>2093</fpage>
<lpage>2102</lpage>
<history><date date-type="received"><day>07</day>
<month>2</month>
<year>2006</year>
</date>
<date date-type="rev-recd"><day>07</day>
<month>4</month>
<year>2006</year>
</date>
<date date-type="accepted"><day>10</day>
<month>4</month>
<year>2006</year>
</date>
</history>
<copyright-statement>© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</copyright-statement>
<copyright-year>2006</copyright-year>
<license license-type="openaccess"><p>The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions@oxfordjournals.org</p>
</license>
<abstract><p>Mutations in mitofusin 2 (<italic>MFN2</italic>
) have been reported in Charcot–Marie–Tooth type 2 (CMT2) families. To study the distribution of mutations in <italic>MFN2</italic>
we screened 323 families and isolated patients with distinct CMT phenotypes. In 29 probands, we identified 22 distinct <italic>MFN2</italic>
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 <italic>MFN2</italic>
mutations was 33% indicating that <italic>MFN2</italic>
mutations are a major cause in this population.</p>
</abstract>
<kwd-group><kwd>Charcot–Marie–Tooth type 2</kwd>
<kwd>mitofusin 2</kwd>
<kwd>genotype–phenotype correlation</kwd>
</kwd-group>
</article-meta>
<notes><def-list><title>Abbreviations</title>
<def-item><term>CMAP</term>
<def><p>compound motor action potentials</p>
</def>
</def-item>
<def-item><term>CMT</term>
<def><p>Charcot–Marie–Tooth disease type 1</p>
</def>
</def-item>
</def-list>
</notes>
</front>
</article>
</istex:document>
</istex:metadataXml>
<mods version="3.6"><titleInfo><title>MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA"><title>MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2</title>
</titleInfo>
<name type="personal"><namePart type="given">Kristien</namePart>
<namePart type="family">Verhoeven</namePart>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<description>*These authors contributed equally to this work.</description>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kristl G.</namePart>
<namePart type="family">Claeys</namePart>
<affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Department of Child Neurology, University Hospital of Gent Gent</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<description>*These authors contributed equally to this work.</description>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stephan</namePart>
<namePart type="family">Züchner</namePart>
<affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</affiliation>
<affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">J. Michael</namePart>
<namePart type="family">Schröder</namePart>
<affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Joachim</namePart>
<namePart type="family">Weis</namePart>
<affiliation>Department of Neuropathology, University Hospital RWTH Aachen, Aachen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Chantal</namePart>
<namePart type="family">Ceuterick</namePart>
<affiliation>Laboratory of Neuropathology, Institute Born Bunge, University of Antwerp Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Albena</namePart>
<namePart type="family">Jordanova</namePart>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Department of Neurology, Klinikum Lippe-Lemgo Germany</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Eva</namePart>
<namePart type="family">Nelis</namePart>
<affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Els</namePart>
<namePart type="family">De Vriendt</namePart>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Matthias</namePart>
<namePart type="family">Van Hul</namePart>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Pavel</namePart>
<namePart type="family">Seeman</namePart>
<affiliation>Department of Neurology, Sofia Medical University Sofia, Bulgaria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Radim</namePart>
<namePart type="family">Mazanec</namePart>
<affiliation>DNA Laboratory, Department of Child Neurology, Charles University Prague Prague, Czech Republic</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Gulam Mustafa</namePart>
<namePart type="family">Saifi</namePart>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kinga</namePart>
<namePart type="family">Szigeti</namePart>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Pedro</namePart>
<namePart type="family">Mancias</namePart>
<affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ian J.</namePart>
<namePart type="family">Butler</namePart>
<affiliation>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Andrzej</namePart>
<namePart type="family">Kochanski</namePart>
<affiliation>Department of Neurology, Second School of Medicine, Charles University Prague Prague, Czech Republic</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Barbara</namePart>
<namePart type="family">Ryniewicz</namePart>
<affiliation>Neuromuscular Unit, Mossakowski Medical Research Center Warszawa, Poland</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jan</namePart>
<namePart type="family">De Bleecker</namePart>
<affiliation>Department of Neurology, University Hospital of Gent Gent</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
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</name>
<name type="personal"><namePart type="given">Peter</namePart>
<namePart type="family">Van den Bergh</namePart>
<affiliation>Division of Neurology, University Hospital Saint-Luc Brussels</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
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</name>
<name type="personal"><namePart type="given">Christine</namePart>
<namePart type="family">Verellen</namePart>
<affiliation>Center of Human Genetics, Catholic University of Louvain Brussels</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Rudy</namePart>
<namePart type="family">Van Coster</namePart>
<affiliation>Department of Child Neurology, University Hospital of Gent Gent</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Nathalie</namePart>
<namePart type="family">Goemans</namePart>
<affiliation>Child Neurology, University of Leuven Campus Gasthuisberg, Leuven</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Michaela</namePart>
<namePart type="family">Auer-Grumbach</namePart>
<affiliation>Department of Neurology, Medical University Warszawa, Poland</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Wim</namePart>
<namePart type="family">Robberecht</namePart>
<affiliation>Laboratory for Neurobiology, University of Leuven Campus Gasthuisberg, Leuven</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Vedrana</namePart>
<namePart type="family">Milic Rasic</namePart>
<affiliation>Institute of Medical Biology and Human Genetics, Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz Graz, Austria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Yoram</namePart>
<namePart type="family">Nevo</namePart>
<affiliation>Clinic for Child Neurology and Psychiatry, University of Belgrade Belgrade, Serbia and Montenegro</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ivajlo</namePart>
<namePart type="family">Tournev</namePart>
<affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Velina</namePart>
<namePart type="family">Guergueltcheva</namePart>
<affiliation>Department of Molecular Pathology, Sofia Medical University Sofia, Bulgaria</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Filip</namePart>
<namePart type="family">Roelens</namePart>
<affiliation>Division of Pediatric Neurology, ‘Heilig-Hart’ Hospital Roeselare Roeselare, Belgium</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Peter</namePart>
<namePart type="family">Vieregge</namePart>
<affiliation>Department of Child Neurology, Tel Aviv University Tel Aviv, Israel</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Paolo</namePart>
<namePart type="family">Vinci</namePart>
<affiliation>Department of Rehabilitation of Charcot–Marie–Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini Rome, Italy</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Maria Teresa</namePart>
<namePart type="family">Moreno</namePart>
<affiliation>Division of Infectious Diseases, Hospital del Nino, University of Panama Panama City, Panama</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">H.-J.</namePart>
<namePart type="family">Christen</namePart>
<affiliation>Department of Neuropediatrics, Children's Hospital ‘Auf der Bult’ Hannover</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Michael E.</namePart>
<namePart type="family">Shy</namePart>
<affiliation>Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University Detroit, USA</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">James R.</namePart>
<namePart type="family">Lupski</namePart>
<affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jeffery M.</namePart>
<namePart type="family">Vance</namePart>
<affiliation>Center for Human Genetics, Duke University Medical Center Durham, NC</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Peter</namePart>
<namePart type="family">De Jonghe</namePart>
<affiliation>Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Division of Neurology, University Hospital of Antwerp (UZA) Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Vincent</namePart>
<namePart type="family">Timmerman</namePart>
<affiliation>Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology Antwerpen</affiliation>
<affiliation>Correspondence to: Prof. Dr Vincent Timmerman, PhD, Peripheral Neuropathy Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8), University of Antwerp (UA), Universiteitsplein 1, B-2610 Antwerpen, Belgium</affiliation>
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<originInfo><publisher>Oxford University Press</publisher>
<dateIssued encoding="w3cdtf">2006-05-19</dateIssued>
<dateCreated encoding="w3cdtf">2006-05-19</dateCreated>
<copyrightDate encoding="w3cdtf">2006</copyrightDate>
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<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.</abstract>
<note>Abbreviations CMAPcompound motor action potentials CMTCharcot–Marie–Tooth disease type 1</note>
<note type="footnotes">*These authors contributed equally to this work.</note>
<subject><genre>keywords</genre>
<topic>Charcot–Marie–Tooth type 2</topic>
<topic>mitofusin 2</topic>
<topic>genotype–phenotype correlation</topic>
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<relatedItem type="host"><titleInfo><title>Brain</title>
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<genre type="journal">journal</genre>
<identifier type="ISSN">0006-8950</identifier>
<identifier type="eISSN">1460-2156</identifier>
<identifier type="PublisherID">brainj</identifier>
<identifier type="PublisherID-hwp">brain</identifier>
<part><date>2006</date>
<detail type="volume"><caption>vol.</caption>
<number>129</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>8</number>
</detail>
<extent unit="pages"><start>2093</start>
<end>2102</end>
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<identifier type="DOI">10.1093/brain/awl126</identifier>
<accessCondition type="use and reproduction" contentType="copyright">© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org</accessCondition>
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