caa a22 4500 397573243 CHVBK 20180308164847.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1065 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1065 Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24 [Elektronische Daten] [Vincent Timmerman, Peter De Jonghe, Sandra Simokovic, Ann Löfgren, Joke Beuten, Eva Nelis, Chantal Ceuterick, Jean-Jacques Martin, Christine Van Broeckhoven] The distal hereditary motor neuropathy (distal HMN) or the spinal form of Charcot-Marie-Tooth (CMT) disease is an exclusively motor disorder of the peripheral nervous system. The disorder clinically resembles the hereditary motor and sensory neuropathies (HMSN) type I and type II or CMT type 1 and type 2. Distal HMN might also be related to the spinal muscular atrophies (SMA) since, in both disorders, the lower motor neurons are affected. Electrophysiological and neuropathological examinations of peripheral nerves show the absence of sensory involvement. We performed a genome search in an extended Belgian family with autosomal dominant distal HMN type II. Significant linkage was obtained with markers located at chromosome 12q24, and the gene for distal HMN II was assigned to the 13 cM interval between D12S86 and D12S340. © 1996 Oxford University Press Timmerman Vincent Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut De Jonghe Peter Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut Simokovic Sandra Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut Löfgren Ann Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut Beuten Joke Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut Nelis Eva Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut Ceuterick Chantal Laboratory of Neuropathology, Born-Bunge Foundation, University of Antwerp (UIA), Department of Medicine, Antwerpen, Belgium aut Martin Jean-Jacques Division of Neurology, University Hospital Antwerp (UZA), Antwerpen, Belgium aut Van Broeckhoven Christine Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1065-1069 0964-6906 5:7<1065 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1065 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1065 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Timmerman Vincent Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 700 1- De Jonghe Peter Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Simokovic Sandra Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Löfgren Ann Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Beuten Joke Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Nelis Eva Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Ceuterick Chantal Laboratory of Neuropathology, Born-Bunge Foundation, University of Antwerp (UIA), Department of Medicine, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Martin Jean-Jacques Division of Neurology, University Hospital Antwerp (UZA), Antwerpen, Belgium aut NATIONALLICENCE 700 1- Van Broeckhoven Christine Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1065-1069 0964-6906 5:7<1065 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford