caa a22 4500 397575130 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199610 xx s 000 0 eng 10.1093/hmg/5.10.1685 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.10.1685 Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23-q33 [Elektronische Daten] [E. LeGuern, A. Guilbot, M. Kessali, N. Ravisé, J. Tassin, T. Maisonobe, D. Grid, A. Brice] Charcot-Marie-Tooth (CMT) disease is the most frequent inherited peripheral motor and sensory neuropathy characterised by chronic distal weakness with progressive muscular atrophy and sensory loss of the distal extremities. The dominant form of the disease is genetically heterogeneous but only one locus has been identified on chromosome 8q13-q21.1 for auto-somal recessive CMT. By homozygosity mapping in a large Algerian kindred, we have assigned a second locus for autosomal recessive CMT to chromosome 5q23-33. Linkage analysis demonstrated that the same locus is involved in a second Algerian family with a demyelinating CMT. Haplotype reconstruction and determination of the minimal region of homozygosity restricts the candidate region to a 4 cM interval. © 1996 Oxford University Press LeGuern E. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut Guilbot A. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut Kessali M. Service de Neurologie, CHU Mustapha, Algiers, Algeria aut Ravisé N. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut Tassin J. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut Maisonobe T. Laboratoire de Neuropathologie R. Escourolle, Hôpital de la Salpêtrière, Paris, France aut Grid D. Service de Neurologie, CHU Mustapha, Algiers, Algeria aut Brice A. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut Human Molecular Genetics Oxford University Press 5/10(1996-10), 1685-1688 0964-6906 5:10<1685 1996 5 hmg https://doi.org/10.1093/hmg/5.10.1685 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.10.1685 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- LeGuern E. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut NATIONALLICENCE 700 1- Guilbot A. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut NATIONALLICENCE 700 1- Kessali M. Service de Neurologie, CHU Mustapha, Algiers, Algeria aut NATIONALLICENCE 700 1- Ravisé N. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut NATIONALLICENCE 700 1- Tassin J. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut NATIONALLICENCE 700 1- Maisonobe T. Laboratoire de Neuropathologie R. Escourolle, Hôpital de la Salpêtrière, Paris, France aut NATIONALLICENCE 700 1- Grid D. Service de Neurologie, CHU Mustapha, Algiers, Algeria aut NATIONALLICENCE 700 1- Brice A. INSERM U289, Hôpital de la Salpêtrière, Paris, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/10(1996-10), 1685-1688 0964-6906 5:10<1685 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