MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
Identifieur interne : 001589 ( Main/Exploration ); précédent : 001588; suivant : 001590MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
Auteurs : Kristien Verhoeven [Belgique] ; Kristl G. Claeys [Belgique] ; Stephan Züchner [États-Unis, Belgique] ; J. Michael Schröder [Belgique] ; Joachim Weis [Belgique] ; Chantal Ceuterick [Belgique] ; Albena Jordanova [Allemagne, Belgique] ; Eva Nelis [Belgique] ; Els De Vriendt [Belgique] ; Matthias Van Hul [Belgique] ; Pavel Seeman [Bulgarie, Belgique] ; Radim Mazanec [République tchèque, Belgique] ; Gulam Mustafa Saifi [États-Unis, Belgique] ; Kinga Szigeti [États-Unis, Belgique] ; Pedro Mancias [États-Unis, Belgique] ; Ian J. Butler [États-Unis, Belgique] ; Andrzej Kochanski [République tchèque, Belgique] ; Barbara Ryniewicz [Pologne, Belgique] ; Jan De Bleecker [Belgique] ; Peter Van Den Bergh [Belgique] ; Christine Verellen [Belgique] ; Rudy Van Coster [Belgique] ; Nathalie Goemans [Belgique] ; Michaela Auer-Grumbach [Pologne, Belgique] ; Wim Robberecht [Belgique] ; Vedrana Milic Rasic [Autriche, Belgique] ; Yoram Nevo [Monténégro, Belgique] ; Ivajlo Tournev [Bulgarie, Belgique] ; Velina Guergueltcheva [Bulgarie, Belgique] ; Filip Roelens [Belgique] ; Peter Vieregge [Israël, Belgique] ; Paolo Vinci [Italie, Belgique] ; Maria Teresa Moreno [Panama, Belgique] ; H.-J. Christen [Belgique] ; Michael E. Shy [États-Unis, Belgique] ; James R. Lupski [États-Unis, Belgique] ; Jeffery M. Vance [États-Unis, Belgique] ; Peter De Jonghe [Belgique] ; Vincent Timmerman [Belgique]Source :
- 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
Affiliations:
- Allemagne, Autriche, Belgique, Bulgarie, Israël, Italie, Monténégro, Panama, Pologne, République tchèque, États-Unis
- Caroline du Nord, Province d'Anvers, Région de Bruxelles-Capitale, Texas
- Anvers, Bruxelles
- Université d'Anvers
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Le document en format XML
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<wicri:regionArea>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</wicri:regionArea>
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<wicri:regionArea>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</wicri:regionArea>
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</author>
<author><name sortKey="Butler, Ian J" sort="Butler, Ian J" uniqKey="Butler I" first="Ian J." last="Butler">Ian J. Butler</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Neurology, The University of Texas Health Science Centre at Houston Medical School Houston</wicri:cityArea>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kochanski, Andrzej" sort="Kochanski, Andrzej" uniqKey="Kochanski A" first="Andrzej" last="Kochanski">Andrzej Kochanski</name>
<affiliation wicri:level="1"><country xml:lang="fr">République tchèque</country>
<wicri:regionArea>Department of Neurology, Second School of Medicine, Charles University Prague Prague</wicri:regionArea>
<wicri:noRegion>Charles University Prague Prague</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ryniewicz, Barbara" sort="Ryniewicz, Barbara" uniqKey="Ryniewicz B" first="Barbara" last="Ryniewicz">Barbara Ryniewicz</name>
<affiliation wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Neuromuscular Unit, Mossakowski Medical Research Center Warszawa</wicri:regionArea>
<wicri:noRegion>Mossakowski Medical Research Center Warszawa</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="3"><country>Belgique</country>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
<wicri:orgArea>Division of Neurology</wicri:orgArea>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verellen, Christine" sort="Verellen, Christine" uniqKey="Verellen C" first="Christine" last="Verellen">Christine Verellen</name>
<affiliation wicri:level="3"><country>Belgique</country>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
</placeName>
<wicri:orgArea>Center of Human Genetics</wicri:orgArea>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goemans, Nathalie" sort="Goemans, Nathalie" uniqKey="Goemans N" first="Nathalie" last="Goemans">Nathalie Goemans</name>
<affiliation></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="1"><country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Neurology, Medical University Warszawa</wicri:regionArea>
<wicri:noRegion>Medical University Warszawa</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name>
<affiliation></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="1"><country xml:lang="fr">Autriche</country>
<wicri:regionArea>Institute of Medical Biology and Human Genetics, Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz Graz</wicri:regionArea>
<wicri:noRegion>Medical University Graz Graz</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name>
<affiliation wicri:level="1"><country xml:lang="fr">Monténégro</country>
<wicri:regionArea>Clinic for Child Neurology and Psychiatry, University of Belgrade Belgrade</wicri:regionArea>
<wicri:noRegion>University of Belgrade Belgrade</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tournev, Ivajlo" sort="Tournev, Ivajlo" uniqKey="Tournev I" first="Ivajlo" last="Tournev">Ivajlo Tournev</name>
<affiliation wicri:level="1"><country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Molecular Pathology, Sofia Medical University Sofia</wicri:regionArea>
<wicri:noRegion>Sofia Medical University Sofia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
<affiliation wicri:level="1"><country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Department of Molecular Pathology, Sofia Medical University Sofia</wicri:regionArea>
<wicri:noRegion>Sofia Medical University Sofia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roelens, Filip" sort="Roelens, Filip" uniqKey="Roelens F" first="Filip" last="Roelens">Filip Roelens</name>
<affiliation wicri:level="1"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>Division of Pediatric Neurology, ‘Heilig-Hart’ Hospital Roeselare Roeselare</wicri:regionArea>
<wicri:noRegion>‘Heilig-Hart’ Hospital Roeselare Roeselare</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<affiliation wicri:level="1"><country xml:lang="fr">Israël</country>
<wicri:regionArea>Department of Child Neurology, Tel Aviv University Tel Aviv</wicri:regionArea>
<wicri:noRegion>Tel Aviv University Tel Aviv</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vinci, Paolo" sort="Vinci, Paolo" uniqKey="Vinci P" first="Paolo" last="Vinci">Paolo Vinci</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Rehabilitation of Charcot–Marie–Tooth Disease and Other Neuromuscular Disorders, Specialized Rehabilitation Hospital L. Spolverini Rome</wicri:regionArea>
<wicri:noRegion>Specialized Rehabilitation Hospital L. Spolverini Rome</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="1"><country xml:lang="fr">Panama</country>
<wicri:regionArea>Division of Infectious Diseases, Hospital del Nino, University of Panama Panama City</wicri:regionArea>
<wicri:noRegion>University of Panama Panama City</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="1"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Center for Molecular Medicine and Genetics, Wayne State University Detroit</wicri:regionArea>
<wicri:noRegion>Wayne State University Detroit</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine Houston</wicri:cityArea>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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 wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Medical Center Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</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></affiliation>
<affiliation></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Timmerman, Vincent" sort="Timmerman, Vincent" uniqKey="Timmerman V" first="Vincent" last="Timmerman">Vincent Timmerman</name>
<affiliation></affiliation>
<affiliation wicri:level="4"><country xml:lang="fr">Belgique</country>
<wicri:regionArea>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</wicri:regionArea>
<orgName type="university">Université d'Anvers</orgName>
<placeName><settlement type="city">Anvers</settlement>
<region type="district" nuts="2">Province d'Anvers</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Brain</title>
<idno type="ISSN">0006-8950</idno>
<idno type="eISSN">1460-2156</idno>
<imprint><publisher>Oxford University Press</publisher>
<date type="published" when="2006-05-19">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>
</imprint>
<idno type="ISSN">0006-8950</idno>
</series>
<idno type="istex">E6C7A6E3FDB95DED793A90DE8C592886A26B0424</idno>
<idno type="DOI">10.1093/brain/awl126</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0006-8950</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Autriche</li>
<li>Belgique</li>
<li>Bulgarie</li>
<li>Israël</li>
<li>Italie</li>
<li>Monténégro</li>
<li>Panama</li>
<li>Pologne</li>
<li>République tchèque</li>
<li>États-Unis</li>
</country>
<region><li>Caroline du Nord</li>
<li>Province d'Anvers</li>
<li>Région de Bruxelles-Capitale</li>
<li>Texas</li>
</region>
<settlement><li>Anvers</li>
<li>Bruxelles</li>
</settlement>
<orgName><li>Université d'Anvers</li>
</orgName>
</list>
<tree><country name="Belgique"><region name="Province d'Anvers"><name sortKey="Verhoeven, Kristien" sort="Verhoeven, Kristien" uniqKey="Verhoeven K" first="Kristien" last="Verhoeven">Kristien Verhoeven</name>
</region>
<name sortKey="Auer Grumbach, Michaela" sort="Auer Grumbach, Michaela" uniqKey="Auer Grumbach M" first="Michaela" last="Auer-Grumbach">Michaela Auer-Grumbach</name>
<name sortKey="Butler, Ian J" sort="Butler, Ian J" uniqKey="Butler I" first="Ian J." last="Butler">Ian J. Butler</name>
<name sortKey="Ceuterick, Chantal" sort="Ceuterick, Chantal" uniqKey="Ceuterick C" first="Chantal" last="Ceuterick">Chantal Ceuterick</name>
<name sortKey="Christen, H J" sort="Christen, H J" uniqKey="Christen H" first="H.-J." last="Christen">H.-J. Christen</name>
<name sortKey="Claeys, Kristl G" sort="Claeys, Kristl G" uniqKey="Claeys K" first="Kristl G." last="Claeys">Kristl G. Claeys</name>
<name sortKey="De Bleecker, Jan" sort="De Bleecker, Jan" uniqKey="De Bleecker J" first="Jan" last="De Bleecker">Jan De Bleecker</name>
<name sortKey="De Jonghe, Peter" sort="De Jonghe, Peter" uniqKey="De Jonghe P" first="Peter" last="De Jonghe">Peter De Jonghe</name>
<name sortKey="De Vriendt, Els" sort="De Vriendt, Els" uniqKey="De Vriendt E" first="Els" last="De Vriendt">Els De Vriendt</name>
<name sortKey="Goemans, Nathalie" sort="Goemans, Nathalie" uniqKey="Goemans N" first="Nathalie" last="Goemans">Nathalie Goemans</name>
<name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
<name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
<name sortKey="Kochanski, Andrzej" sort="Kochanski, Andrzej" uniqKey="Kochanski A" first="Andrzej" last="Kochanski">Andrzej Kochanski</name>
<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<name sortKey="Mancias, Pedro" sort="Mancias, Pedro" uniqKey="Mancias P" first="Pedro" last="Mancias">Pedro Mancias</name>
<name sortKey="Mazanec, Radim" sort="Mazanec, Radim" uniqKey="Mazanec R" first="Radim" last="Mazanec">Radim Mazanec</name>
<name sortKey="Milic Rasic, Vedrana" sort="Milic Rasic, Vedrana" uniqKey="Milic Rasic V" first="Vedrana" last="Milic Rasic">Vedrana Milic Rasic</name>
<name sortKey="Moreno, Maria Teresa" sort="Moreno, Maria Teresa" uniqKey="Moreno M" first="Maria Teresa" last="Moreno">Maria Teresa Moreno</name>
<name sortKey="Nelis, Eva" sort="Nelis, Eva" uniqKey="Nelis E" first="Eva" last="Nelis">Eva Nelis</name>
<name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name>
<name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name>
<name sortKey="Roelens, Filip" sort="Roelens, Filip" uniqKey="Roelens F" first="Filip" last="Roelens">Filip Roelens</name>
<name sortKey="Roelens, Filip" sort="Roelens, Filip" uniqKey="Roelens F" first="Filip" last="Roelens">Filip Roelens</name>
<name sortKey="Ryniewicz, Barbara" sort="Ryniewicz, Barbara" uniqKey="Ryniewicz B" first="Barbara" last="Ryniewicz">Barbara Ryniewicz</name>
<name sortKey="Saifi, Gulam Mustafa" sort="Saifi, Gulam Mustafa" uniqKey="Saifi G" first="Gulam Mustafa" last="Saifi">Gulam Mustafa Saifi</name>
<name sortKey="Schroder, J Michael" sort="Schroder, J Michael" uniqKey="Schroder J" first="J. Michael" last="Schröder">J. Michael Schröder</name>
<name sortKey="Seeman, Pavel" sort="Seeman, Pavel" uniqKey="Seeman P" first="Pavel" last="Seeman">Pavel Seeman</name>
<name sortKey="Shy, Michael E" sort="Shy, Michael E" uniqKey="Shy M" first="Michael E." last="Shy">Michael E. Shy</name>
<name sortKey="Szigeti, Kinga" sort="Szigeti, Kinga" uniqKey="Szigeti K" first="Kinga" last="Szigeti">Kinga Szigeti</name>
<name sortKey="Timmerman, Vincent" sort="Timmerman, Vincent" uniqKey="Timmerman V" first="Vincent" last="Timmerman">Vincent Timmerman</name>
<name sortKey="Tournev, Ivajlo" sort="Tournev, Ivajlo" uniqKey="Tournev I" first="Ivajlo" last="Tournev">Ivajlo Tournev</name>
<name sortKey="Van Coster, Rudy" sort="Van Coster, Rudy" uniqKey="Van Coster R" first="Rudy" last="Van Coster">Rudy Van Coster</name>
<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>
<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>
<name sortKey="Van Hul, Matthias" sort="Van Hul, Matthias" uniqKey="Van Hul M" first="Matthias" last="Van Hul">Matthias Van Hul</name>
<name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
<name sortKey="Verellen, Christine" sort="Verellen, Christine" uniqKey="Verellen C" first="Christine" last="Verellen">Christine Verellen</name>
<name sortKey="Verellen, Christine" sort="Verellen, Christine" uniqKey="Verellen C" first="Christine" last="Verellen">Christine Verellen</name>
<name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
<name sortKey="Vinci, Paolo" sort="Vinci, Paolo" uniqKey="Vinci P" first="Paolo" last="Vinci">Paolo Vinci</name>
<name sortKey="Weis, Joachim" sort="Weis, Joachim" uniqKey="Weis J" first="Joachim" last="Weis">Joachim Weis</name>
<name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
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<country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
</region>
<name sortKey="Butler, Ian J" sort="Butler, Ian J" uniqKey="Butler I" first="Ian J." last="Butler">Ian J. Butler</name>
<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<name sortKey="Mancias, Pedro" sort="Mancias, Pedro" uniqKey="Mancias P" first="Pedro" last="Mancias">Pedro Mancias</name>
<name sortKey="Saifi, Gulam Mustafa" sort="Saifi, Gulam Mustafa" uniqKey="Saifi G" first="Gulam Mustafa" last="Saifi">Gulam Mustafa Saifi</name>
<name sortKey="Shy, Michael E" sort="Shy, Michael E" uniqKey="Shy M" first="Michael E." last="Shy">Michael E. Shy</name>
<name sortKey="Szigeti, Kinga" sort="Szigeti, Kinga" uniqKey="Szigeti K" first="Kinga" last="Szigeti">Kinga Szigeti</name>
<name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name>
</noRegion>
</country>
<country name="Bulgarie"><noRegion><name sortKey="Seeman, Pavel" sort="Seeman, Pavel" uniqKey="Seeman P" first="Pavel" last="Seeman">Pavel Seeman</name>
</noRegion>
<name sortKey="Guergueltcheva, Velina" sort="Guergueltcheva, Velina" uniqKey="Guergueltcheva V" first="Velina" last="Guergueltcheva">Velina Guergueltcheva</name>
<name sortKey="Tournev, Ivajlo" sort="Tournev, Ivajlo" uniqKey="Tournev I" first="Ivajlo" last="Tournev">Ivajlo Tournev</name>
</country>
<country name="République tchèque"><noRegion><name sortKey="Mazanec, Radim" sort="Mazanec, Radim" uniqKey="Mazanec R" first="Radim" last="Mazanec">Radim Mazanec</name>
</noRegion>
<name sortKey="Kochanski, Andrzej" sort="Kochanski, Andrzej" uniqKey="Kochanski A" first="Andrzej" last="Kochanski">Andrzej Kochanski</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Ryniewicz, Barbara" sort="Ryniewicz, Barbara" uniqKey="Ryniewicz B" first="Barbara" last="Ryniewicz">Barbara Ryniewicz</name>
</noRegion>
<name sortKey="Auer Grumbach, Michaela" sort="Auer Grumbach, Michaela" uniqKey="Auer Grumbach M" first="Michaela" last="Auer-Grumbach">Michaela Auer-Grumbach</name>
</country>
<country name="Autriche"><noRegion><name sortKey="Milic Rasic, Vedrana" sort="Milic Rasic, Vedrana" uniqKey="Milic Rasic V" first="Vedrana" last="Milic Rasic">Vedrana Milic Rasic</name>
</noRegion>
</country>
<country name="Monténégro"><noRegion><name sortKey="Nevo, Yoram" sort="Nevo, Yoram" uniqKey="Nevo Y" first="Yoram" last="Nevo">Yoram Nevo</name>
</noRegion>
</country>
<country name="Israël"><noRegion><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Vinci, Paolo" sort="Vinci, Paolo" uniqKey="Vinci P" first="Paolo" last="Vinci">Paolo Vinci</name>
</noRegion>
</country>
<country name="Panama"><noRegion><name sortKey="Moreno, Maria Teresa" sort="Moreno, Maria Teresa" uniqKey="Moreno M" first="Maria Teresa" last="Moreno">Maria Teresa Moreno</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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