{"id":62083,"date":"2018-03-09T22:49:59","date_gmt":"2018-03-09T22:49:59","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/miocardiopatia-hipertrofica-mutaciones-en-genes-sarcomericos-y-correlacion-genotipo-fenotipo\/"},"modified":"2018-03-09T22:49:59","modified_gmt":"2018-03-09T22:49:59","slug":"miocardiopatia-hipertrofica-mutaciones-en-genes-sarcomericos-y-correlacion-genotipo-fenotipo","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/miocardiopatia-hipertrofica-mutaciones-en-genes-sarcomericos-y-correlacion-genotipo-fenotipo\/","title":{"rendered":"Miocardiopatia hipertrofica. mutaciones en genes sarcomericos y correlacion genotipo fenotipo."},"content":{"rendered":"<h2>Tesis doctoral de <strong> Monica Garcia Castro <\/strong><\/h2>\n<p>La miocardiopat\u00eda hipertr\u00f3fica (mch) es una enfermedad cardiaca de base gen\u00e9tica relativamente frecuente que afecta a una de cada 500 personas. Las formas m\u00e1s severas de la enfermedad suelen tener una manifestaci\u00f3n a edad temprana, por debajo de los 50 a\u00f1os y la mitad de los casos tienen antecedentes familiares. En la mayor\u00eda de las formas familiares los pacientes tienen mutaciones en genes que codifican prote\u00ednas del sarc\u00f3mero card\u00edaco, la unidad de contracci\u00f3n del tejido cardiaco. Dado el riesgo elevado de muerte s\u00fabita entre los portadores de mutaciones en los genes myh7 y tnnt2, resulta cr\u00edtico determinar su presencia en pacientes hipertr\u00f3ficos o con riesgo de haber heredado la enfermedad, particulamente en pacientes j\u00f3venes. en la poblaci\u00f3n espa\u00f1ola no ha sido descrita la preValencia de mutaciones en los genes m\u00e1s frecuentemente mutados de esta enfermedad, por ello el objetivo principal de esta tesis doctoral es analizar los genes m\u00e1s mutados en pacientes diagnosticados de mch: myh7, tnnt2, mybpc3 y tpm1, que representan entre un 40-50% de la preValencia de mutaciones en esta enfermedad.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Miocardiopatia hipertrofica. mutaciones en genes sarcomericos y correlacion genotipo fenotipo.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Miocardiopatia hipertrofica. mutaciones en genes sarcomericos y correlacion genotipo fenotipo. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Monica Garcia Castro <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Oviedo<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 18\/12\/2007<\/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>Eliecer Coto Garcia<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: c\u00e9sar Mor\u00eds de la tassa <\/li>\n<li>Luisa Botella cubells (vocal)<\/li>\n<li> De berrazueta fernandez Jos\u00e9 ramon (vocal)<\/li>\n<li>Juan  ramon Gimeno blanes (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Monica Garcia Castro La miocardiopat\u00eda hipertr\u00f3fica (mch) es una enfermedad cardiaca de base gen\u00e9tica relativamente frecuente que [&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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