caa a22 4500 39757455X CHVBK 20180308164851.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.1051 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.1051 Localization of a Gene Responsible for Autosomal Recessive Demyelinating Neuropathy with Focally Folded Myelin Sheaths to Chromosome 11q23 by Homozygosity Mapping and Haplotype Sharing [Elektronische Daten] [Alessandra Bolino, Valeria Brancolini, Francesco Bono, Amalia Bruni, Antonio Gambardella, Giovanni Romeo, Aldo Quattrone, Marcella Devoto] Hereditary motor and sensory neuropathy (HMSN) with focally folded myelin sheaths, or Charcot-Marie-Tooth type 4B (CMT4B), is a distinct clinical entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We first described a large pedigree with CMT4B, which showed a high consanguinity level and an autosomal recessive pattern of inheritance. Through conventional linkage analysis, we excluded linkage of the locus segregating in this pedigree to any of the known genes responsible for other HMSNs. Using homozygosity mapping and haplotype sharing analysis, we were able to localize the disease gene in a 4 cM interval on chromosome 11q23, between the D11S1332 and D11S917 loci. On the basis of the clinical characteristics of the disease, we propose that this locus corresponds to the CMT4B gene. © 1996 Oxford University Press Bolino Alessandra Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy aut Brancolini Valeria Department of Psychiatry, Columbia University, New York, NY, USA aut Bono Francesco Clinica Neurologica Facoltà di Medicina, Catanzaro, Italy aut Bruni Amalia Unità Operativa CNR USL6, Lamezia Terme, Italy aut Gambardella Antonio Clinica Neurologica Facoltà di Medicina, Catanzaro, Italy aut Romeo Giovanni Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy aut Quattrone Aldo Clinica Neurologica Facoltà di Medicina, Catanzaro, Italy aut Devoto Marcella Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 1051-1054 0964-6906 5:7<1051 1996 5 hmg https://doi.org/10.1093/hmg/5.7.1051 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.1051 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bolino Alessandra Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy aut NATIONALLICENCE 700 1- Brancolini Valeria Department of Psychiatry, Columbia University, New York, NY, USA aut NATIONALLICENCE 700 1- Bono Francesco Clinica Neurologica Facoltà di Medicina, Catanzaro, Italy aut NATIONALLICENCE 700 1- Bruni Amalia Unità Operativa CNR USL6, Lamezia Terme, Italy aut NATIONALLICENCE 700 1- Gambardella Antonio Clinica Neurologica Facoltà di Medicina, Catanzaro, Italy aut NATIONALLICENCE 700 1- Romeo Giovanni Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy aut NATIONALLICENCE 700 1- Quattrone Aldo Clinica Neurologica Facoltà di Medicina, Catanzaro, Italy aut NATIONALLICENCE 700 1- Devoto Marcella Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 1051-1054 0964-6906 5:7<1051 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