{"id":91373,"date":"2018-03-11T10:10:07","date_gmt":"2018-03-11T10:10:07","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-molecular-y-modificadores-fenota%c2%adpicos-de-la-enfermedad-de-mcardle\/"},"modified":"2018-03-11T10:10:07","modified_gmt":"2018-03-11T10:10:07","slug":"analisis-molecular-y-modificadores-fenota%c2%adpicos-de-la-enfermedad-de-mcardle","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/analisis-molecular-y-modificadores-fenota%c2%adpicos-de-la-enfermedad-de-mcardle\/","title":{"rendered":"An\u00e1lisis molecular y modificadores fenot\u00edpicos de la enfermedad de mcardle"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Juan  Carlos Rubio Mu\u00f1oz <\/strong><\/h2>\n<p>En el presente estudio se han caracterizado molecularmente una amplia serie de pacientes espa\u00f1oles con enfermedad de mcardle. La mutaci\u00f3n p.R50x es la m\u00e1s prevalente en la poblaci\u00f3n estudiada, as\u00ed mismo se han identificado 10 nuevas mutaciones en el gen pygm, que cumpl\u00edan los criterios de patogenicidad exigidos. Los pacientes se han clasificado en funci\u00f3n del grado de severidad cl\u00ednica, observ\u00e1ndose una gran heterogeneidad a este nivel. Se ha establecido una estrategia de diagn\u00f3stico molecular e n sangre que permite caracterizar al 75   de los pacientes mediante una metodolog\u00eda no invasiva. Por otro lado se ha estudiado el posible efecto modulador en el fenotipo cl\u00ednico de los pacientes de diversos polimorfismos descritos en genes relacionad os con el ejercicio y la capacidad f\u00edsica, y de otras variables como son el sexo y la edad. Por \u00faltimo se ha evaluado el papel del mecanismo de degradaci\u00f3n mediada por prote\u00ednas terminadoras (nonsense mediated decay) en los mensajeros del gen pygm en  m\u00fasculo esquel\u00e9tico de pacientes con enfermedad de mcardle, especialmente considerando las mutaciones que producen codones prematuros de terminaci\u00f3n.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00e1lisis molecular y modificadores fenot\u00edpicos de la enfermedad de mcardle<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00e1lisis molecular y modificadores fenot\u00edpicos de la enfermedad de mcardle <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Juan  Carlos Rubio Mu\u00f1oz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 26\/01\/2009<\/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>Joaquin Arenas Barbero<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: enrique Bl\u00e1zquez fern\u00e1ndez <\/li>\n<li>bel\u00e9n Bornstein s\u00e1nchez (vocal)<\/li>\n<li>Rafael Garesse alarc\u00f3n (vocal)<\/li>\n<li>antoni lLuis Andreu periz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Juan Carlos Rubio Mu\u00f1oz En el presente estudio se han caracterizado molecularmente una amplia serie de pacientes [&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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