{"id":135430,"date":"1997-01-01T00:00:00","date_gmt":"1997-01-01T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-clinico-genetico-neurofisiologico-y-neuropatologico-de-la-neuropatia-hereditaria-sensitivomotora-dominante-ligada-al-cromosoma-x\/"},"modified":"1997-01-01T00:00:00","modified_gmt":"1997-01-01T00:00:00","slug":"estudio-clinico-genetico-neurofisiologico-y-neuropatologico-de-la-neuropatia-hereditaria-sensitivomotora-dominante-ligada-al-cromosoma-x","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-clinico-genetico-neurofisiologico-y-neuropatologico-de-la-neuropatia-hereditaria-sensitivomotora-dominante-ligada-al-cromosoma-x\/","title":{"rendered":"Estudio clinico, genetico, neurofisiologico y neuropatologico de la neuropatia hereditaria sensitivomotora dominante ligada al cromosoma x."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Agustin Oterino Duran <\/strong><\/h2>\n<p>Se estudia la primera familia espa\u00f1ola afecta de charcot-marie-tooth ligada al sexo, con caracter dominante. En la familia se estudian 17 pacientes afectos (10 m, 7v) con los que destaca la mayor gravedad clinica en los varones que en las hembras y con una edad clinica de presentacion tambien mas precoz en los varones (10 a\u00f1os en varones, 16 en mujeres). La clinica se caracteriza por los signos y sintomas propios del charcot-marie-tooth, con predominio de las manifestaciones algicas, sensitivas y vegetativas.  se asocia de forma significativa a la presencia de cefalea con caracteristicas de migra\u00f1a con aura.  la neurofisiolog\u00eda llevada a cabo en los nervios mediano cubital, peroneal y sural, demuestra que se trata de una neuropatia axonal mas grave en los varones que en las mujeres. La neuropatolog\u00eda del nervio sural de dos mujeres portadoras demuestra afectacion axonal de las fibras nerviosas mielinicas gruesas y finas y amielinicas. Esta neuropatia se demuestra que esta causada por la mutacion c552t situada en el exon 2 del que gjb1 que codifica la proteina conexina 32.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio clinico, genetico, neurofisiologico y neuropatologico de la neuropatia hereditaria sensitivomotora dominante ligada al cromosoma x.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio clinico, genetico, neurofisiologico y neuropatologico de la neuropatia hereditaria sensitivomotora dominante ligada al cromosoma x. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Agustin Oterino Duran <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 La laguna<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/01\/1997<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li> Monton Alvarez Fernando Isidro<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 Angel Berciano Blanco <\/li>\n<li>Onofre Conbarros Pascual (vocal)<\/li>\n<li>Francisco Santolaria Fernandez (vocal)<\/li>\n<li>Manuel Rodriguez Diaz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Agustin Oterino Duran Se estudia la primera familia espa\u00f1ola afecta de charcot-marie-tooth ligada al sexo, con caracter [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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