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dc.creatorLeal Esquivel, Alejandro
dc.creatorBerghoff, Corinna
dc.creatorBerghoff, Martin
dc.creatordel Valle Carazo, Gerardo
dc.creatorContreras, Carlos
dc.creatorMontoya, Olga
dc.creatorHernández, Erick
dc.creatorBarrantes Mesén, Ramiro
dc.creatorSchlötzer Schrehardt, Ursula
dc.creatorNeundörfer, Bernhard
dc.creatorReis, André
dc.creatorRautenstrauss, Bernd
dc.creatorHeuss, Dieter
dc.date.accessioned2015-04-14T15:52:47Z
dc.date.available2015-04-14T15:52:47Z
dc.date.issued2003-07-05
dc.identifier.citationhttp://link.springer.com/article/10.1007%2Fs10048-003-0153-0es_ES
dc.identifier.issnissn:1364-6745
dc.identifier.issnissn:1364-6753
dc.identifier.urihttp://hdl.handle.net/10669/11382
dc.descriptionartículo -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 2003es_ES
dc.description.abstractAbstract. Charcot-Marie-Tooth disease type IB (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. Here we report a Costa Rican family with a hereditary peripheral neuropathy due to a novel Tyr145Ser MPZ mutation. Four family members were heterozygously affected; two siblings of two heterozygous carriers were homozygous for this mutation. On neurological examination the heterozygous parents and their homozygous children both showed distal sensory deficits. The mother and the siblings displayed impaired deep tendon reflexes and mild sensory ataxia. The homozygous individuals were more severely affected with an earlier age of onset, distal motor weakness, and pupillary abnormalities. Electrophysiological studies revealed both signs of demyelination and axonal nerve degeneration. The sural nerve biopsy of one sibling showed thinly myelinated nerve fibers, onion bulb formation, and clusters of regenerating fibers. On electron microscopy axonal degeneration and decompaction of inner myelin layers were found. This Costa Rican family shows phenotypic variability depending on the homozygous or heterozygous state of the Tyr145Ser mutation carriers.es_ES
dc.description.sponsorshipinfo:eu-repo/grantAgreement/Universidad de Costa Rica/Instituto de Investigaciones Psicológicas ////es_ES
dc.language.isoen_USes_ES
dc.publisherNeurogenetics : 4 (4) p. 191-197es_ES
dc.sourceNeurogenetics 4(4):191-197. 2003es_ES
dc.subjectSalud públicaes_ES
dc.subjectGenéticaes_ES
dc.subjectTrastorno neurológicoes_ES
dc.titleCharcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one familyes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.typeartículo científicoes_ES
dc.identifier.doi10.1007/s10048-003-0153-0
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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