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dc.creatorLeal Esquivel, Alejandro
dc.creatorMorera Brenes, Bernales_ES
dc.creatordel Valle Carazo, Gerardo
dc.creatorHeuss, Dieter
dc.creatorKayser, Corinna
dc.creatorBerghoff, Martin
dc.creatorVillegas Palma, Ramón
dc.creatorHernández, Erick
dc.creatorMéndez, María
dc.creatorHennies, Hans Christian
dc.creatorBernhard, Neundörfer
dc.creatorBarrantes Mesén, Ramiro
dc.creatorReis, André
dc.creatorRautenstrauss, Bernd
dc.date.accessioned2015-07-10T22:09:27Z
dc.date.available2015-07-10T22:09:27Z
dc.date.issued2001
dc.identifier.citationhttp://www.sciencedirect.com/science/article/pii/S0002929707624963es_ES
dc.identifier.citationhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1234926/pdf/AJHGv68p269.pdf
dc.identifier.issn0002-9297
dc.identifier.urihttps://hdl.handle.net/10669/15080
dc.descriptionArtículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2001. Este documento es privado debido a limitaciones de derechos de autor.es_ES
dc.description.abstractAutosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results of a genomewide search in an inbred Costa Rican family (CR-1) affected with autosomal recessive CMT2. By analyzing three branches of the family we detected linkage to the 19q13.3 region, and subsequent homozygosity mapping defined shared haplotypes between markers D195902 and D19S907 in a 5.5-cM range. A maximum two-point LOD score of 9.08 was obtained for marker 019S867, at a recombination fraction of .00, which strongly supports linkage to this locus. The epithelial membrane protein 3 gene, encoding a PMP22 homologous protein and located on 19q13.3, was ruled out as being responsible for this form of CMT. The age at onset of chronic symmetric sensory-motor polyneuropathy was 28-42 years (mean 33.8 years); the electrophysiological data clearly reflect an axonal degenerative process. The phenotype and locus are different from those of demyelinating CMT4F, recently mapped to 19q13.1-13.3; hence, the disease affecting the Costa Rican family constitutes an axonal, autosomal recessive CMT subtype (ARCMT2B).es_ES
dc.description.sponsorshipUniversidad de Costa Rica. Instituto de Investigaciones en Saludes_ES
dc.language.isoeses_ES
dc.publisherAmerican Journal Human Genetic ; 68 (1 p. 269-274es_ES
dc.sourceAmerican Journal Human Genetics 58:269-274es_ES
dc.subjectCosta Ricaes_ES
dc.subjectGenética humanaes_ES
dc.subjectHuman geneticses_ES
dc.titleA Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3es_ES
dc.typeartículo científicoes_ES
dc.identifier.doidoi:10.1086/316934
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)es_ES


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