{"id":14853,"date":"2018-03-09T09:01:44","date_gmt":"2018-03-09T09:01:44","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/aspectos-bioqua%c2%admicos-y-genetico-moleculares-de-las-intolerancias-al-ejercicio\/"},"modified":"2018-03-09T09:01:44","modified_gmt":"2018-03-09T09:01:44","slug":"aspectos-bioqua%c2%admicos-y-genetico-moleculares-de-las-intolerancias-al-ejercicio","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/aspectos-bioqua%c2%admicos-y-genetico-moleculares-de-las-intolerancias-al-ejercicio\/","title":{"rendered":"Aspectos bioqu\u00edmicos y gen\u00e9tico-moleculares de las intolerancias al ejercicio"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Miguel Angel Martin Casanueva <\/strong><\/h2>\n<p>En el presente estudio se tipifican las bases moleculares de 60 pacientes con s\u00edndrome de intolerancia al ejercicio, 38 de los cuales presentaron d\u00e9ficit de miofosforilasa mpl, 16 d\u00e9ficit de carnitina-palmitil transferasa ii cpt ii, y 6 d\u00e9ficit de mioadenilato desaminasa mada.  las mutaciones m\u00e1s frecuentes en el gen pygm asociadas a d\u00e9ficit de mpl fueron la r49x, w797r, g204s y 753dela. Adem\u00e1s se han encontrado 12 nuevas mutaciones en el gen pygm que cumplieron los criterios de patogenicidad exigidos. En los pacientes con d\u00e9ficit de cpt ii la mutaci\u00f3n m\u00e1s frecuente en el gen cpt2 fue la s113l. Adem\u00e1s se han encontrado 3 nuevas mutaciones patog\u00e9nicas en el gen cpt2. Los pacientes con d\u00e9ficit de mada era portadores  de la mutaci\u00f3n q12x en el gen ampd1.  se describen m\u00e9todos por pcr-rflp para realizar el cribado molecular de dichas mutaciones.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Aspectos bioqu\u00edmicos y gen\u00e9tico-moleculares de las intolerancias al ejercicio<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Aspectos bioqu\u00edmicos y gen\u00e9tico-moleculares de las intolerancias al ejercicio <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Miguel Angel Martin Casanueva <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 20\/12\/2001<\/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>Jos\u00e9 Mar\u00eda Culebras Poza<\/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>Juan  Emilio Feliu albi\u00f1ana (vocal)<\/li>\n<li>Rafael Garesse alarc\u00f3n (vocal)<\/li>\n<li>Javier Jimen\u00e9z jimen\u00e9z (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Miguel Angel Martin Casanueva En el presente estudio se tipifican las bases moleculares de 60 pacientes con [&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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